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Variant (rsID / SNP)

rs149949619

DHDDS

rs149949619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHDDS. Location: chromosome 1, position 26,764,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DHDDSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:26764735
Cytoband
1p36.11
HGVS
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
Allele change
Missense_R47Q

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 59

Public references

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