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:38367332 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM941115

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB OTC_AAA0000024, 7414

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays