Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 1:237492989 (forward strand) | View in location tab


with COSMIC COSM679949 (C/A)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


LSDB RYR2_1863C_T_111110

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts, has 2833 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays