Original source

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

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

Chromosome 2:127426207 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM116761, CM910315

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB PC-HY15, 17271

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays