Variant (rsID / SNP)

rs139778757

rs139778757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPF6. Location: chromosome 20, position 62,664,263. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRPF6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:62664263
Cytoband: 20q13.33
HGVS: NM_012469.4(PRPF6):c.2743G>A (p.Val915Met)
Allele change: Missense_V915M

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.