RYR1 c.14767_14772del ;(p.F4923_F4924del)

Variant ID: 19-39075695-CCTTCTT-C

NM_000540.2(RYR1):c.14767_14772del;(p.F4923_F4924del)

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:

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

Cell Calcium
Xu, Le L; Harms, Frederike L FL; Chirasani, Venkat R VR; Pasek, Daniel A DA; Kortüm, Fanny F; Meinecke, Peter P; Dokholyan, Nikolay V NV; Kutsche, Kerstin K; Meissner, Gerhard G
Publication Date: 2020-05

Variant appearance in text: RYR1: 14767_14772del
PubMed Link: 32097819
Variant Present in the following documents:
  • Main text
View BVdb publication page