Original source

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

A/C | Ancestral: A | Ambiguity code: M | MAF: 0.05 (C)

Chromosome X:19357664 (forward strand) | View in location tab


with COSMIC COSM1740794 (A/C), COSM1740793 (A/C) ; HGMD-PUBLIC CM119793, CM950922

Most severe consequence
Start lost
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 15 transcripts, has 3111 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays