Variant (rsID / SNP)

rs115117837

rs115117837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCBD1. Location: chromosome 10, position 72,643,759. Clinical significance in the table: Likely benign.

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Reference-table entries

PCBD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:72643759
Cytoband: 10q22.1
HGVS: NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln)
Allele change: Silent

Associated conditions / phenotypes

Pterin-4 alpha-carbinolamine dehydratase 1 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.