Variant (rsID / SNP)

rs104894275

rs104894275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTS. Location: chromosome 11, position 112,099,388. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:112099388
Cytoband: 11q23.1
HGVS: NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
Allele change: Missense_N52S

Associated conditions / phenotypes

6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

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.