Original source

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

with HGMD-PUBLIC CM930586

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_061_PGAM2_261670_0003, 17506

This variant has 6 HGVS names - click the plus to show

About this variant

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

Variant displays