LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002760)
Patient ID 16875
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM48966, Ding et al., 2008
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64407_64429del
cDNA change c.1017_1039del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 10_ex
RNA change -
Protein p.Asp340Tyrfs*5
RBWiki -
expected consequence type unknown
DB-ID RB1_01545
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.64407_64429del c.1017_1039del Deletion 10_ex - p.Asp340Tyrfs*5 - unknown RB1_01545 somatic

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