Variant (rsID / SNP)

rs4705390

rs4705390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,242,788. Clinical significance in the table: Benign.

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Reference-table entries

PDE6ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:149242788
Cytoband: 5q32
HGVS: NM_000440.3(PDE6A):c.2400C>T (p.Asp800=)
Allele change: Synonymous_D800D

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.