GJB1 c.575T>C ;(p.V192A)

Variant ID: X-70444132-T-C

NM_000166.5(GJB1):c.575T>C;(p.V192A)

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:

A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma.

Cold Spring Harbor Molecular Case Studies
Chen, Kenneth S KS; Kwon, Woo Sun WS; Kim, Jiwoong J; Heo, Su Jin SJ; Kim, Hyo Song HS; Kim, Hyo Ki HK; Kim, Soo Hee SH; Lee, Won Suk WS; Chung, Hyun Cheol HC; Rha, Sun Young SY; Hwang, Tae Hyun TH
Publication Date: 2016-09

Variant appearance in text: GJB1: 575T>C; Val192Ala
PubMed Link: 27626065
Variant Present in the following documents:
  • supp_mcs.a000992_Table_S2_osteosarcoma_mutect_variants.xlsx, sheet 1
View BVdb publication page