TTN c.107545del ;(p.A35849Qfs*16)

Variant ID: 2-179392308-GC-G

NM_001267550.1(TTN):c.107545del;(p.A35849Qfs*16)

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:

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Frontiers In Neurology
Luo, Yue-Bei YB; Peng, Yuyao Y; Lu, Yuling Y; Li, Qiuxiang Q; Duan, Huiqian H; Bi, Fangfang F; Yang, Huan H
Publication Date: 2020

Variant appearance in text: TTN: 107545delG
PubMed Link: 33041974
Variant Present in the following documents:
  • Main text
  • fneur-11-01014.pdf
View BVdb publication page