HR c.191_192delinsAG ;(p.G64E)

Variant ID: 8-21986492-GC-CT

NM_005144.4(HR):c.191_192delinsAG;(p.G64E)

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:

Detection of a novel missense mutations in atrichia with papular lesions.

Annals Of Dermatology
Lee, Deborah D; Kim, Sang-Hyun SH; Chun, Ji-Sung JS; Joo, Myeong-Hoon MH; Kim, Ji-Yeon JY; Hwang, Seon-Wook SW; Kang, Hyo-Joon HJ; Park, Sung-Wook SW; Sung, Ho-Suk HS
Publication Date: 2011-05

Variant appearance in text: HR: G64E
PubMed Link: 21747609
Variant Present in the following documents:
  • Main text
View BVdb publication page