Variant (rsID / SNP)

rs117639561

rs117639561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SULF1. Location: chromosome 8, position 70,550,982. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SULF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:70550982
Cytoband: 8q13.3
HGVS: NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)
Allele change: Missense_V814M

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.