Variant (rsID / SNP)

rs137852850

rs137852850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUMF1. Location: chromosome 3, position 4,491,006. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SUMF1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:4491006
Cytoband: 3p26.1
HGVS: NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
Allele change: Missense_S155P

Associated conditions / phenotypes

Multiple sulfatase 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.