LOVD - Variant listings for RB1

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Patient data (#0002465)
Patient ID Case no.5
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template RNA
tumor-genotype heterozygous
family history unknown
Reference Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5.
# Reported 1
Published published
Remarks bladder cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156809del
cDNA change c.2077del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 20_ex
RNA change -
Protein p.(Glu693Asnfs*3)
RBWiki -
expected consequence type unknown
DB-ID RB1_01401
originated_in unknown

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.156809del c.2077del Deletion 20_ex - p.(Glu693Asnfs*3) - unknown RB1_01401 unknown

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