Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: 0.04 (A)

Chromosome X:31478314 (forward strand) | View in location tab


with HGMD-PUBLIC CM940360 ; PhenCode DMD:c.8729A>G (T/C), DMD:c.8729A>T (T/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 12 transcripts, has 3202 sample genotypes and is associated with 3 phenotypes.

Variant displays