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

Chromosome 22:50529579 (forward strand) | View in location tab


with HGMD-PUBLIC CM024595

Most severe consequence
Evidence status

Clinical significance


LSDB 2009_August_001_053_ECGF1_131222_0009, 1701

This variation has 21 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 28 transcripts, has 1 individual genotype and is associated with 2 phenotypes.

Variation displays