Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (C)
Location

Chromosome X:32501833 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM930192 ; PhenCode DMD:c.2302C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 26261

HGVS names

This variant has 30 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays