Variant (rsID / SNP)

rs113793810

rs113793810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,542,143. Clinical significance in the table: Benign.

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Reference-table entries

RP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:55542143
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)
Allele change: Missense_L1901F

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.