LOVD - Variant listings for RB1

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Patient data (#0002640)
Patient ID LU-134-A
Phenotype -
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM13408
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5510G>A
cDNA change c.224G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 02_ex
RNA change -
Protein p.Trp75X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00494
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.5510G>A c.224G>A substitution 02_ex - p.Trp75X - nonsense RB1_00494 somatic

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