Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141252097

PDE6A

rs141252097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,323,933. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PDE6AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:149323933
Cytoband
5q32
HGVS
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
Allele change
Missense_R102S

Associated conditions / phenotypes

Retinitis pigmentosa|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 43

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.