LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000305)
Patient ID Lu-24 cl
Phenotype other tumor
Mut. origin somatic
Tissue SCLC cell line
Template DNA
tumor-genotype -
family history -
Reference Mori et al., 1990
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.162092_162093delinsTT
cDNA change c.2307_2308delinsTT   (View in UCSC Genome Browser, Ensembl)
Type complex
Exon 22_ex
RNA change -
Protein p.Leu769PhefsX1
RBWiki -
expected consequence type nonsense
DB-ID RB1_00170
originated_in -

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/+ Unknown g.162092_162093delinsTT c.2307_2308delinsTT complex 22_ex - p.Leu769PhefsX1 - nonsense RB1_00170 -

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