Original source

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

G/A|Ambiguity code: R

Chromosome X:38310690 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961260 ; PhenCode RISN_RPGR:c.703C>T (G/A), RPGR_00016 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 8442, RISN-RPGR:c.703C>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