TTN c.271A>G ;(p.S91G)

Variant ID: 2-179666889-T-C

NM_001267550.1(TTN):c.271A>G;(p.S91G)

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:

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Annals Of Translational Medicine
Lu, Qiang Q; Shang, Liang L; Tian, Wo Tu WT; Cao, Li L; Zhang, Xue X; Liu, Qing Q
Publication Date: 2020-01

Variant appearance in text: TTN: 271A>G; S91G
PubMed Link: 32055599
Variant Present in the following documents:
  • Main text
View BVdb publication page