Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 2:219421482 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013258 ; PhenCode HIFD_DES:c.1166A>C (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays