LOVD - Variant listings for RB1

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Patient data (#0002716)
Patient ID OCUB-M
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM27172
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2183delC
cDNA change c.124del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein p.Leu42Cysfs*23
RBWiki -
expected consequence type unknown
DB-ID RB1_01520
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.2183delC c.124del Deletion 01_ex - p.Leu42Cysfs*23 - unknown RB1_01520 somatic

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