Original source

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

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome X:37805098 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays