Original source

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

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

Chromosome X:2934870 (forward strand) | View in location tab


with HGMD-PUBLIC CM030777

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, has 1 sample genotype, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays