Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome X:38367367 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM001741, CM001742

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB OTC_AAA0000039, OTC_AAA0000040

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays