Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)

Chromosome X:48686113 (forward strand) | View in location tab


with COSMIC COSM4109780 (C/T) ; HGMD-PUBLIC CM102376

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB WAS_538C_A_071411

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays