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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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