Original source

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

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

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

Co-located

with HGMD-PUBLIC CM001742, CM001741

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB OTC_AAA0000039, OTC_AAA0000040

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays