Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 7:44146587 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920308

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_019_GCK_138079_0005, 2203

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays