Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 7:44065264 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930585

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17505, 2010_April_001_060_PGAM2_261670_0002

HGVS names

This variant has 6 HGVS names - Show

About this variant

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

Variant displays