Original source

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

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

Chromosome X:83509034 (forward strand) | View in location tab


with COSMIC COSM4157036 (G/C), COSM1180653 (G/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2507 sample genotypes and is associated with 1 phenotype.

Variant displays