Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

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

Co-located

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 7147

This variant has 36 HGVS names - click the plus to show

About this variant

This variant overlaps 22 transcripts and is associated with 3 phenotypes.

Variant displays