Original source

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

C/A|Ancestral: C|Ambiguity code: M

Chromosome 7:44147720 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM930303, CM984218

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 2010_April_001_021_GCK_138079_0008, 2206

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays