Original source

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

C/T | Ambiguity code: Y | MAF: 0.13 (T)

Chromosome X:38297424 (forward strand) | View in location tab


with PhenCode RISN_RPGR:c.1274G>A (C/T), RPGR_00212 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2506 sample genotypes and is associated with 1 phenotype.

Variant displays