LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003117)
Patient ID NCI-H1173
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM13413
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.42018T>A
cDNA change c.473T>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 04_ex
RNA change -
Protein p.Leu158X
RBWiki -
expected consequence type unknown
DB-ID RB1_01846
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.42018T>A c.473T>A Substitution 04_ex - p.Leu158X - unknown RB1_01846 somatic

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