Original source

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

C/A|Ambiguity code: M

Chromosome X:38322921 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM971311 ; PhenCode RISN_RPGR:c.179G>T (C/A), RPGR_00004 (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 8446, RISN-RPGR:c.179G>T

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays