Variant (rsID / SNP)

rs74939746

rs74939746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPHN. Location: chromosome 14, position 67,646,400. Clinical significance in the table: Benign.

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Reference-table entries

GPHNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:67646400
Cytoband: 14q23.3
HGVS: NM_020806.5(GPHN):c.2176+9T>C
Allele change: Silent

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

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.