Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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 FHC0203 (C/T), MYL2:c.64G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

About this variant

This variant overlaps 6 transcripts, has 1092 individual genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variation displays