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:137567340 (forward strand) | View in location tab


with COSMIC COSM32555 (C/G) ; HGMD-PUBLIC CM040505

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_373_ZIC3_300265_0007, 6972

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays