This variant has been flagged

Variation has more than 3 different alleles

Original source

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

T/A/C/G | Ancestral: T | Ambiguity code: N

Chromosome 18:31592975 (forward strand) | View in location tab


with HGMD-PUBLIC CM920683, CM971538

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4884, 4849

This variant has 36 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 18 transcripts and is associated with 4 phenotypes.

Variant displays