View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for RB1

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

978 public entries
entries per page

Path. Hide Path. column Descending
Ascending
g-position Hide g-position column Descending
Ascending
cDNA change   Descending
Ascending
Type Hide Type column Descending
Ascending
Exon Hide Exon column Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
RBWiki Hide RBWiki column Descending
Ascending
expected consequence type Hide expected consequence type column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
originated_in Hide originated_in column Descending
Ascending
Patient ID Hide Patient ID column Descending
Ascending
Phenotype Hide Phenotype column Descending
Ascending
Mut. origin Hide Mut. origin column Descending
Ascending
Tissue Hide Tissue column Descending
Ascending
Template Hide Template column Descending
Ascending
tumor-genotype Hide tumor-genotype column Descending
Ascending
family history Hide family history column Descending
Ascending
Reference Hide Reference column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
Published Hide Published column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam129 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam408 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam130 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam143 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam458 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam611 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb14 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - JA523 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb 200 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3576 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2398 bilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1217 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1223 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E5417 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2644 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2685 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E364 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3294 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3806 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam502 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam646 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam381 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam437 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam546 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam647 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam696 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam822 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam854 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam959 unilateral rb somatic retinoblastoma DNA - not reported not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam716 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam960 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam214 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam914 unilateral rb somatic nd DNA - Isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 9b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA - - - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 86/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - CO345 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 12 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR10T bilateral rb germline retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR02T unilateral rb somatic retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB-54 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - F5; pt# 10 bilateral retinoma germline blood DNA - familial - 1 published -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB16 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB18 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
?/? g.76430C>T c.1333C>T
    + c.751C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E579 bilateral rb germline tumor DNA heterozygous familial Lohmann - Essen, Germany:Essen 1 unpublished -
?/? g.76430C>T c.1333C>T
    + c.1735C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E2150 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 somatic Patient 2 unilateral rb somatic tumor DNA - - Kumaramanickavel et al., (2003), J Genet.82(1-2):39-44. 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown not provided - - nd DNA - - dbSNP 1 - -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline #8 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown Tab_1_8 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - FM55 other cancer somatic melanoma cell line DNA heterozygous - Bartkova et al., 1996 1 published melanoma
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - A.F. bilateral rb germline blood DNA not reported - Hogg et al., 1992 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - GOS159 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - G416 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - RB151 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E587 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam409 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam425 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam428 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam649 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam909 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam703 unilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - JA13 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Rb228 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2196 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2139 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E5015 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2596 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - germline nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E430 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3126 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3858 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3915 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3607 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam677 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam213 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
401 - 500
[<-] 1 2 3 4 5 6 7 8 9 10 [->]

Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

Please help to improve the quality of the data and report any error that you may find!

  Powered by LOVD v.2.0 Build 34
Enabled modules: mutalyzer, recaptcha, showmaxdbid
©2004-2012 Leiden University Medical Center