Variant (rsID / SNP)

rs147394623

rs147394623 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHDDS. Location: chromosome 1, position 26,764,719. Clinical significance in the table: Pathogenic.

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Reference-table entries

DHDDSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:26764719
Cytoband: 1p36.11
HGVS: NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
Allele change: Missense_K42E

Associated conditions / phenotypes

Retinitis pigmentosa 59|Developmental delay and seizures with or without movement abnormalities|Retinitis pigmentosa 59|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.