Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.19 (T)

Chromosome 19:38434174 (forward strand) | View in location tab


with PhenCode RYR1:c.45+300T>C (T/C)

Most severe consequence
Intron variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3695 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays