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OR5A1 c.154A>T ;(p.I52F)
Variant ID: 11-59210795-A-T
NM_001004728.1(
OR5A1
):c.154A>T;(p.I52F)
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:
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: rs17153732
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs17153732
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page