Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 2:219421350 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992621 ; PhenCode HIFD_DES:c.1034T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 6 transcripts and is associated with 4 phenotypes.

Variant displays