Variant (rsID / SNP)

rs281875319

rs281875319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYCR1. Location: chromosome 17, position 79,892,256. Clinical significance in the table: Pathogenic.

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Reference-table entries

PYCR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:79892256
Cytoband: 17q25.3
HGVS: NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)
Allele change: Silent

Associated conditions / phenotypes

PYCR1-related de Barsy syndrome

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.