Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


LSDB 17504, 2010_April_001_059_PGAM2_261670_0001

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

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

About this variant

This variant overlaps 19 transcripts, has 1362 individual genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays