MYH7 c.2134C>G ;(p.R712G)

Variant ID: 14-23895201-G-C

NM_000257.2(MYH7):c.2134C>G;(p.R712G)

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:

Converter domain mutations in myosin alter structural kinetics and motor function.

The Journal Of Biological Chemistry
Gunther, Laura K LK; Rohde, John A JA; Tang, Wanjian W; Walton, Shane D SD; Unrath, William C WC; Trivedi, Darshan V DV; Muretta, Joseph M JM; Thomas, David D DD; Yengo, Christopher M CM
Publication Date: 2019-02-01

Variant appearance in text: MYH7: R712G
PubMed Link: 30518549
Variant Present in the following documents:
  • Main text
View BVdb publication page