Variant (rsID / SNP)

rs142330047

rs142330047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCO1. Location: chromosome 17, position 10,599,080. Clinical significance in the table: Likely benign.

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Reference-table entries

SCO1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:10599080
Cytoband: 17p13.1
HGVS: NM_004589.4(SCO1):c.342C>A (p.His114Gln)
Allele change: Missense_H114Q

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.