Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 24 HGVS names - click the plus to show

Genotyping chips

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

About this variant

This variant overlaps 12 transcripts, has 698 individual genotypes and is associated with 3 phenotypes.

Variation displays