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TOP1MT c.216C>A ;(p.D72E)
Variant ID: 8-144413416-G-T
NM_052963.2(
TOP1MT
):c.216C>A;(p.D72E)
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: rs2450772
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01
Variant appearance in text: rs2450772
PubMed Link:
20843780
Variant Present in the following documents:
Main text
gkq750.pdf
View BVdb publication page