LOVD - Variant listings for RB1

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Patient data (#0002809)
Patient ID S83854
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM932, Chibon et al., 2000
# Reported 1
Published published
Remarks possibly damaging / deleterious

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.73869G>T
cDNA change c.1332G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 13_ex
RNA change -
Protein p.Gln444His
RBWiki -
expected consequence type missense
DB-ID RB1_01571
originated_in somatic

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.73869G>T c.1332G>T Substitution 13_ex - p.Gln444His - missense RB1_01571 somatic

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