LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002543)
Patient ID nd
Phenotype retinoblastoma
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history familial low penetrance
Reference -
# Reported 1
Published -
Remarks Found in low penetrance rb family: 2 unilateral rb and 4 unaffected carriers

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2062G>C
cDNA change c.3G>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 01_ex
RNA change -
Protein p.Met1Ile
RBWiki [Met1Ile]
expected consequence type unknown
DB-ID RB1_01455
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.2062G>C c.3G>C Substitution 01_ex - p.Met1Ile [Met1Ile] unknown RB1_01455 -

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