Original source

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

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

Chromosome 2:127428495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM951016

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17283, PC-HY14

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays