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EGR1 c.349_350insC ;(p.V117Afs*99)
Variant ID: 5-137802487-G-GC
NM_001964.2(
EGR1
):c.349_350insC;(p.V117Afs*99)
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:
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Plos One
Zhao, Jiandong J; Yuan, Yongyi Y; Huang, Shasha S; Huang, Bangqing B; Cheng, Jing J; Kang, Dongyang D; Wang, Guojian G; Han, Dongyi D; Dai, Pu P
Publication Date: 2014
Variant appearance in text: 225: 349insC
PubMed Link:
25372295
Variant Present in the following documents:
Main text
View BVdb publication page