LOVD - Variant listings for RB1

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Patient data (#0002838)
Patient ID H209
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSM883, Bignon et al.1990;1;647-51
# Reported 1
Published published
Remarks probably damaging / deleterious

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.160740G>T
cDNA change c.2117G>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 21_ex
RNA change -
Protein p.Cys706Phe
RBWiki -
expected consequence type unknown
DB-ID RB1_01272
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.160740G>T c.2117G>T substitution 21_ex - p.Cys706Phe - unknown RB1_01272 somatic

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