LOVD - Variant listings for RB1

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Patient data (#0002482)
Patient ID BG#519 (619)
Phenotype unilateral rb
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Richter et al. (2003) Am J Hum Genet. 2003 Feb; 72(2): 253-69
# Reported 1
Published published
Remarks Tumor w/ het c.2536insC, het. promoter methyl + het Pro20Leu, blood only Pro20Leu

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2118C>T
cDNA change c.59C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Pro20Leu
RBWiki Pro20Leu
expected consequence type missense
DB-ID RB1_00493
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.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 -

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