Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome X:38367347 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910274

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 7392, OTC_AAA0000029

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