LOVD - Variant listings for RB1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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20 entries
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g-position Hide g-position column Descending

cDNA change   Descending

Type Hide Type column Descending

Exon Hide Exon column Descending

RNA change Hide RNA change column Descending

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expected consequence type Hide expected consequence type column Descending

DB-ID Hide DB-ID column Descending

originated_in Hide originated_in column Descending
g.1772C>T c.-288C>T Substitution 00_up regulatory - - unknown RB1_01855 unknown
g.2090_2092dupGCC c.31_33dupGCC Duplication 01_ex - p.Ala11dup Ala11dup unknown RB1_01447 -
g.2104_2112del c.45_53del
  (Reported 6 times)
deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 -
g.2111_2139dup c.52_80dup Duplication 01_ex - - - unknown RB1_01775 germline
g.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 -
g.2137__2139del c.78_80del Deletion 01_ex - p.Pro29del Pro29del unknown RB1_01448 -
g.5459C>T c.173C>T Substitution 02_ex - p.Thr58Ile - unknown RB1_01566 germline
g.5461G>C c.175G>C Substitution 02_ex - p.Ala59Pro - unknown RB1_01567 somatic
g.5625T>C c.264+75T>C
  (Reported 4 times)
substitution 02_in - variant - variant RB1_01005 -
g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense RB1_01029 -
g.65405A>C c.1091A>C Substitution 11_ex - p.(Glu364Ala) - missense RB1_02056 germline
g.82599 C>T Substitution 17 c.1596 p.Ile532Ile - silent RB1_02109 germline
g.15009A>G c.1707A>G Substitution 18_ex - p.Leu569Leu [Leu569Leu] unknown RB1_01454 -
- c.1815-5T>C Substitution 18_in - - - variant RB1_01874 unknown
g.153244T>C c.1851T>C Substitution 19_ex - p.Gly617Gly - silent RB1_01423 -
- c.1876G>A Substitution 19_ex - p.Ala626Thr - missense RB1_01873 unknown
g.156698C>T c.1966C>T substitution 20_ex - p.Arg656Trp - missense RB1_00403 unknown
g.156812 c.2080_2081insCCTGCAGAACACCCTGCAGAA Insertion 20 - P.693insPAEHPAE - in-frame RB1_02113 germline
g.162333C>T c.2455C>T Substitution 23_ex - p.Leu819Leu p.Leu819Leu silent RB1_01451 -
g.162341A>G c.2463A>G Substitution 23_ex - p.Thr821Thr Thr821Thr silent RB1_01431 -
1 - 20

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.
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)

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