Original source

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

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

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

Co-located

with HGMD-PUBLIC CM930303, CM984218

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_021_GCK_138079_0008, 2206

This variant has 11 HGVS names - click the plus to show

About this variant

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

Variant displays