Original source

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

G/T|Ambiguity code: K

Chromosome X:38321041 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992210, CM116528 ; PhenCode RISN_RPGR:c.296C>A (G/T), RPGR_00006 (G/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 8449, RISN-RPGR:c.296C>A

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