LOVD - Variant listings for RB1

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Patient data (#0002803)
Patient ID NCI-H1734
Phenotype other cancer
Mut. origin somatic
Tissue lung
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM22918
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.39561G>T
cDNA change c.380G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 03_ex
RNA change -
Protein p.Ser127Ile
RBWiki -
expected consequence type splice
DB-ID RB1_01568
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.39561G>T c.380G>T Substitution 03_ex - p.Ser127Ile - splice RB1_01568 somatic

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