Original source

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

T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.04 (C)

Chromosome X:31478309 (forward strand) | View in location tab


with HGMD-PUBLIC CM940361, CX115820 ; PhenCode DMD:c.8734A>G (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 12 transcripts, has 4366 sample genotypes and is associated with 3 phenotypes.

Variant displays