RYR1 c.12315_12328del ;(p.E4106Afs*8)

Variant ID: 19-39051781-GTCCAGAAATCCAGT-G

NM_000540.2(RYR1):c.12315_12328del;(p.E4106Afs*8)

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:

RYR1 causing distal myopathy.

Molecular Genetics & Genomic Medicine
Laughlin, Ruple S RS; Niu, Zhiyv Z; Wieben, Eric E; Milone, Margherita M
Publication Date: 2017-11

Variant appearance in text: RYR1: 12315_12328delAGAAATCCAGTTCC
PubMed Link: 29178655
Variant Present in the following documents:
  • Main text
  • MGG3-5-800.pdf
View BVdb publication page