Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 2:219418599 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM044225, CM044224 ; PhenCode HIFD_DES:c.137C>A (C/A), HIFD_DES:c.137C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays