Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 12:110913316 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961006 ; PhenCode MYL2:c.283C>G (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays