Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)

Chromosome 1:43338634 (forward strand) | View in location tab


with HGMD-PUBLIC CM002058

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4169, 2009_August_001_173_MPL_159530_0005

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays