Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome 18:31592974 (forward strand) | View in location tab


with HGMD-PUBLIC CM098273, CM920684, CM870020

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 24 HGVS names - click the plus to show

About this variant

This variant overlaps 12 transcripts, is associated with 5 phenotypes and is mentioned in 2 citations.

Variation displays