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Variant (rsID / SNP)

rs281875318

PYCR1

rs281875318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYCR1. Location: chromosome 17, position 79,892,230. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PYCR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:79892230
Cytoband
17q25.3
HGVS
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
Allele change
Silent

Associated conditions / phenotypes

PYCR1-related de Barsy syndrome|Inborn genetic diseases|Wiedemann-Rautenstrauch-like progeroid syndrome

Public references

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