Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 7:44065262 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930586

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_061_PGAM2_261670_0003, 17506

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays