RYR1 c.4980C>T ;(p.R1660=)

Variant ID: 19-38976275-C-T

NM_000540.2(RYR1):c.4980C>T;(p.R1660=)

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:

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.

Clinical Case Reports
Poyatos-Andújar, Antonio Miguel AM; García-Linares, Susana S; Carretero, Pilar P; Ocon, Olga O; Fresneda, Dolores D; Gort, Laura L; Molina García, Francisa Sonia FS
Publication Date: 2021-02

Variant appearance in text: RYR1: 4980C>T
PubMed Link: 33598246
Variant Present in the following documents:
  • CCR3-9-790.pdf
View BVdb publication page