HSPA4 c.1244+196A>C

Variant ID: 5-132425049-A-C

NM_002154.3(HSPA4):c.1244+196A>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Respiratory Research
Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W
Publication Date: 2020-02-13

Variant appearance in text: rs10075878
PubMed Link: 32054482
Variant Present in the following documents:
  • 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs10075878
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page