Original source

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

Alleles
A/C|Ambiguity code: M
Location

Chromosome X:38318909 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961257 ; PhenCode RISN_RPGR:c.389T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8441, RISN-RPGR:c.389T>G

HGVS names

This variant has 13 HGVS names - Show

About this variant

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

Variant displays