Original source

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

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

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


with 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


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 2 phenotypes.

Variant displays