TTN c.49415G>A ;(p.C16472Y)

Variant ID: 2-179478595-C-T

NM_001267550.1(TTN):c.49415G>A;(p.C16472Y)

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:

Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.

Molecular Medicine Reports
Zhu, Yao-Bin YB; Luo, Jie-Wei JW; Jiang, Fen F; Liu, Gui G
Publication Date: 2018-05

Variant appearance in text: TTN: 49415G>A
PubMed Link: 29568937
Variant Present in the following documents:
  • Main text
  • mmr-17-05-7073.pdf
View BVdb publication page