Original source

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

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

Chromosome 1:186674636 (forward strand) | View in location tab


with HGMD-PUBLIC CM024574

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 10 transcripts, has 2962 sample genotypes and is mentioned in 3 citations.

Variant displays