LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002629)
Patient ID 16648
Phenotype other cancer
Mut. origin somatic
Tissue tumor (lung)
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM13405
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.56894C>T
cDNA change c.649C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 07_ex
RNA change -
Protein p.Gln217X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01457
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.56894C>T c.649C>T Substitution 07_ex - p.Gln217X - nonsense RB1_01457 somatic

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