Variant (rsID / SNP)

rs148938083

rs148938083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,310,665. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDE6AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:149310665
Cytoband: 5q32
HGVS: NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
Allele change: Missense_A262T

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 43

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.