Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

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


with HGMD-PUBLIC CM930584

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 17504, 2010_April_001_059_PGAM2_261670_0001

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

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2774 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays