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TTN c.98091A>C ;(p.E32697D)
Variant ID: 2-179404802-T-G
NM_001267550.1(
TTN
):c.98091A>C;(p.E32697D)
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:
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Bmc Medical Genetics
Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-05-30
Variant appearance in text: TTN: 98091A>C; E32697D
PubMed Link:
31146700
Variant Present in the following documents:
12881_2019_813_MOESM1_ESM.xls, sheet 1
View BVdb publication page