Original source

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

C/T|Ambiguity code: Y

Chromosome X:38304746 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961262 ; PhenCode RISN_RPGR:c.823G>A (C/T), RPGR_00020 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 8443, RISN-RPGR:c.823G>A

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 9 transcripts and is associated with 3 phenotypes.

Variant displays