LOVD - Variant listings for RB1

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Patient data (#0002648)
Patient ID NCI-H719
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM23826
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.41993A>T
cDNA change c.448A>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 04_ex
RNA change Stop gained
Protein p.Arg150X
RBWiki -
expected consequence type unknown
DB-ID RB1_01498
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.41993A>T c.448A>T Substitution 04_ex Stop gained p.Arg150X - unknown RB1_01498 somatic

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