HR c.292_294delinsGAG ;(p.R98E)

Variant ID: 8-21986390-GCG-CTC

NM_005144.4(HR):c.292_294delinsGAG;(p.R98E)

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:

Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin.

Embo Reports
Sauer, Florian F; Vahokoski, Juha J; Song, Young-Hwa YH; Wilmanns, Matthias M
Publication Date: 2010-07

Variant appearance in text: HR: R98E
PubMed Link: 20489725
Variant Present in the following documents:
  • Main text
View BVdb publication page