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SMARCA5 c.282T>A ;(p.Y94*)
Variant ID: 4-144442611-T-A
NM_003601.3(
SMARCA5
):c.282T>A;(p.Y94*)
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:
Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.
Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04
Variant appearance in text: rs11100790
PubMed Link:
30514953
Variant Present in the following documents:
41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: rs11100790
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page