LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002713)
Patient ID CAL-85-1
Phenotype -
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM27171
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2120_2133
cDNA change c.61_74del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein p.Pro21Alafs*5
RBWiki -
expected consequence type frameshift
DB-ID RB1_01518
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.2120_2133 c.61_74del Deletion 01_ex - p.Pro21Alafs*5 - frameshift RB1_01518 somatic

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