RYR1 c.7528T>C ;(p.Y2510H)

Variant ID: 19-38991544-T-C

NM_000540.2(RYR1):c.7528T>C;(p.Y2510H)

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:

The role of CACNA1S in predisposition to malignant hyperthermia.

Bmc Medical Genetics
Carpenter, Danielle D; Ringrose, Christopher C; Leo, Vincenzo V; Morris, Andrew A; Robinson, Rachel L RL; Halsall, P Jane PJ; Hopkins, Philip M PM; Shaw, Marie-Anne MA
Publication Date: 2009-10-13

Variant appearance in text: RYR1: 7528T>C
PubMed Link: 19825159
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-104.pdf
View BVdb publication page