RET c.937_938delinsTA ;(p.R313*)

Variant ID: 10-43601893-CG-TA

NM_020975.4(RET):c.937_938delinsTA;(p.R313*)

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:

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

American Journal Of Medical Genetics. Part A
Pingault, Veronique V; Pierre-Louis, Laurence L; Chaoui, Asma A; Verloes, Alain A; Sarrazin, Elisabeth E; Brandberg, Goran G; Bondurand, Nadege N; Uldall, Peter P; Manouvrier-Hanu, Sylvie S
Publication Date: 2014-09

Variant appearance in text: RET: Arg313X
PubMed Link: 24845202
Variant Present in the following documents:
  • Main text
View BVdb publication page