Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: < 0.01 (T)
Location

Chromosome 7:44065297 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930584

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 17504, 2010_April_001_059_PGAM2_261670_0001

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 36 transcripts, 1 regulatory feature, has 2774 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays