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TTN c.78157C>T ;(p.Q26053*)
Variant ID: 2-179432702-G-A
NM_001267550.1(
TTN
):c.78157C>T;(p.Q26053*)
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:
Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.
Journal Of Clinical Medicine
Hata, Yukiko Y; Ichimata, Shojiro S; Yamaguchi, Yoshiaki Y; Hirono, Keiichi K; Oku, Yuko Y; Ichida, Fukiko F; Nishida, Naoki N
Publication Date: 2019-04-05
Variant appearance in text: TTN: 78157C>T
PubMed Link:
30959811
Variant Present in the following documents:
jcm-08-00463-s001.pdf
View BVdb publication page