LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002218)
Patient ID 38
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Abouzeid et al. (2007) Mol Vis 13: 1740
# Reported 1
Published published
Remarks Mutation not present in 100 normal chromosomes

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156795T>G
cDNA change c.2063T>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 20_ex
RNA change -
Protein p.Leu688Arg
RBWiki -
expected consequence type -
DB-ID RB1_01240
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.156795T>G c.2063T>G substitution 20_ex - p.Leu688Arg - - RB1_01240 -

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