Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome X:48901944 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061925

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 7421, 2010_April_001_315_PQBP1_300463_0007

HGVS names

This variant has 25 HGVS names - Show

About this variant

This variant overlaps 43 transcripts and is associated with 2 phenotypes.

Variant displays