This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N | 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
Stop gained
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 27 HGVS names - Show

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays