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TTN c.38834del ;(p.P12945Qfs*2)
Variant ID: 2-179517808-TG-T
NM_001267550.1(
TTN
):c.38834del;(p.P12945Qfs*2)
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:
Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.
Acta Cardiologica Sinica
Yeh, Jih-Kai JK; Liu, Wei-Hsiu WH; Wang, Chao-Yung CY; Lu, Jang-Jih JJ; Chen, Chien-Hsiun CH; Wu-Chou, Yah-Huei YH; Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Yang, Chia-Hung CH; Tsai, Ming-Lung ML; Ho, Ming-Yun MY; Hsieh, I-Chang IC; Wen, Ming-Shien MS
Publication Date: 2019-11
Variant appearance in text: TTN: 38834delC; P12945fs
PubMed Link:
31879508
Variant Present in the following documents:
Main text
View BVdb publication page