Variant (rsID / SNP)

rs137852550

rs137852550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGR. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPGRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)
Allele change: Missense_G173R

Associated conditions / phenotypes

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.