Original source

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

A/G | Ancestral: A | Ambiguity code: R

Chromosome X:43744488 (forward strand) | View in location tab


with COSMIC COSM1121508 (A/C)

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_014796

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2 sample genotypes and is mentioned in 2 citations.

Variant displays