Variant (rsID / SNP)

rs121918583

rs121918583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6B. Location: chromosome 4, position 661,711. Clinical significance in the table: Pathogenic.

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Reference-table entries

PDE6BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:661711
Cytoband: 4p16.3
HGVS: NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg)
Allele change: Missense_W807R

Associated conditions / phenotypes

Retinitis pigmentosa 40|Autosomal recessive 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.