This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: 0.02 (A)

Chromosome 1:183563302 (forward strand) | View in location tab


with HGMD-PUBLIC CM992363

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 54 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 27 transcripts, 1 regulatory feature, has 3193 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays