Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays