Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 12:110919133 (forward strand) | View in location tab


with COSMIC COSM245869 (C/T) ; HGMD-PUBLIC CM961005 ; PhenCode MYL2:c.64G>A (C/T), FHC0203 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 3 citations.

Variant displays