RYR1 c.14260C>T ;(p.H4754Y)

Variant ID: 19-39068645-C-T

NM_000540.2(RYR1):c.14260C>T;(p.H4754Y)

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:

Integrative Exome and Transcriptome Analysis of Conjunctival Melanoma and Its Potential Application for Personalized Therapy.

Jama Ophthalmology
Demirci, Hakan H; Demirci, F Yesim FY; Ciftci, Suleyman S; Elner, Victor M VM; Wu, Yi-Mi YM; Ning, Yu Y; Chinnaiyan, Arul A; Robinson, Dan R DR
Publication Date: 2019-12-01

Variant appearance in text: RYR1: H4754Y
PubMed Link: 31647501
Variant Present in the following documents:
  • Main text
View BVdb publication page