Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (T)
Location

Chromosome X:32816565 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM940337, CD951679 ; PhenCode DMD:c.433delC (G/-), DMD:c.433C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7147

HGVS names

This variant has 36 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays