TTN c.262_263delinsGC ;(p.Q88A)

Variant ID: 2-179666897-TG-GC

NM_001267550.1(TTN):c.262_263delinsGC;(p.Q88A)

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:

Cryo-EM structures and functional characterization of murine Slc26a9 reveal mechanism of uncoupled chloride transport.

Elife
Walter, Justin D JD; Sawicka, Marta M; Dutzler, Raimund R
Publication Date: 2019-07-24

Variant appearance in text: TMD: Q88A
PubMed Link: 31339488
Variant Present in the following documents:
  • Main text
  • elife-46986.pdf
View BVdb publication page