Variant (rsID / SNP)

rs142608987

rs142608987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPHN. Location: chromosome 14, position 67,647,536. Clinical significance in the table: Likely benign.

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Reference-table entries

GPHNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:67647536
Cytoband: 14q23.3
HGVS: NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr)
Allele change: Missense_S731T

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.