Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome X:32438372 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1467594, COSM1467595, COSM1467596 ; HGMD-PUBLIC CM100263, CS002446 ; PhenCode DMD:c.3940C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7192

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays