BRCA2 c.4866del ;(p.R1622Sfs*14)

Variant ID: 13-32913358-GA-G

NM_000059.3(BRCA2):c.4866del;(p.R1622Sfs*14)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Hereditary Cancer In Clinical Practice
Dominguez-Valentin, Mev M; Evans, D Gareth R DGR; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018

Variant appearance in text: BRCA2: 4866delA; Arg1622Serfs*14
PubMed Link: 29371908
Variant Present in the following documents:
  • Main text
  • 13053_2018_Article_86.pdf
View BVdb publication page