Variant (rsID / SNP)

rs41302222

rs41302222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOPORS. Location: chromosome 9, position 32,541,880. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TOPORSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:32541880
Cytoband: 9p21.1
HGVS: NM_005802.5(TOPORS):c.2643C>G (p.His881Gln)
Allele change: Missense_H816Q

Associated conditions / phenotypes

Retinitis pigmentosa

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.