Original source

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

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

Chromosome X:38352774 (forward strand) | View in location tab


with HGMD-PUBLIC CS971834, CS063356

Most severe consequence
Splice donor variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays