Variant (rsID / SNP)

rs137852297

rs137852297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPR143. Clinical significance in the table: Pathogenic.

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Reference-table entries

GPR143Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)
Allele change: Missense_T232K

Associated conditions / phenotypes

Ocular albinism, type I

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.