Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (C)

Chromosome X:41589562 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 6878

HGVS names

This variant has 30 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays