Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/T | Ambiguity code: K
Location

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 12 HGVS names - click the plus to show

About this variant

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

Variation displays