LOVD - Variant listings for RB1

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Patient data (#0002721)
Patient ID ECC12
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM19546
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5423_5550del
cDNA change c.138_264del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 02_ex
RNA change -
Protein p.Leu47Glufs*22
RBWiki -
expected consequence type nonsense
DB-ID RB1_01522
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.5423_5550del c.138_264del Deletion 02_ex - p.Leu47Glufs*22 - nonsense RB1_01522 somatic

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