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
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

Genotyping chips

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

About this variant

This variant overlaps 12 transcripts, has 698 sample genotypes and is associated with 4 phenotypes.

Variant displays