Variant (rsID / SNP)

rs36034138

rs36034138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOPORS. Location: chromosome 9, position 32,542,088. Clinical significance in the table: Benign.

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Reference-table entries

TOPORSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:32542088
Cytoband: 9p21.1
HGVS: NM_005802.5(TOPORS):c.2435C>G (p.Pro812Arg)
Allele change: Missense_P747R

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.