IL6 c.619A>G ;(p.R207G)

Variant ID: 7-22771172-A-G

NM_000600.3(IL6):c.619A>G;(p.R207G)

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:

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Investigative Ophthalmology & Visual Science
Wang, Junwen J; Wang, Yingwei Y; Li, Shiqiang S; Xiao, Xueshan X; Yi, Zhen Z; Jiang, Yi Y; Li, Xueqing X; Jia, Xiaoyun X; Wang, Panfeng P; Jin, Chenjin C; Sun, Wenmin W; Zhang, Qingjiong Q
Publication Date: 2022-08-02

Variant appearance in text: HSF: 619A>G
PubMed Link: 35994252
Variant Present in the following documents:
  • iovs-63-9-24_s004.xlsx, sheet 1
  • iovs-63-9-24_s005.xlsx, sheet 1
View BVdb publication page