RET c.1776G>A ;(p.G592=)

Variant ID: 10-43609020-G-A

NM_020975.4(RET):c.1776G>A;(p.G592=)

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:

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Bmc Medical Genetics
Luzón-Toro, Berta B; Espino-Paisán, Laura L; Fernández, Raquel Ma RM; Martín-Sánchez, Marta M; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2015-10-05

Variant appearance in text: RET: 1776G>A; Gly592Gly
PubMed Link: 26437850
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_235.pdf
View BVdb publication page