Variant (rsID / SNP)

rs1058572

rs1058572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPF31. Location: chromosome 19, position 54,627,164. Clinical significance in the table: Benign.

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Reference-table entries

PRPF31Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:54627164
Cytoband: 19q13.42
HGVS: NM_015629.4(PRPF31):c.564G>A (p.Glu188=)
Allele change: Synonymous_E188E

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.