Original source

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

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

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

Co-located

with HGMD-PUBLIC CM920308

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2203, 2010_April_001_019_GCK_138079_0005

This variant has 12 HGVS names - click the plus to show

About this variant

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

Variant displays