Variant (rsID / SNP)

rs113849788

rs113849788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPF8. Location: chromosome 17, position 1,564,328. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRPF8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:1564328
Cytoband: 17p13.3
HGVS: NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)
Allele change: Synonymous_L1489L

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.