Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:237566603 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB RYR2_3251G_A_112410

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 2 transcripts and is associated with 4 phenotypes.

Variant displays