{{Rsnum
|rsid=2819590
|Gene=SUMF1
|Chromosome=3
|position=4467058
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SUMF1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 11.3 | 38.7 | 50.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 1.6 | 98.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2819590
|allele=T
|frequency=0.307
|uid=1103656011125
|type=heterozygous_SNP
|hugo=SUMF1
|ensembl gene=ENSG00000144455
|ensembl transcript=ENST00000272902
|sift=TOLERATED
|disease=Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) (MIM:272200). MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive.
}}

{{GET Evidence
|gene=SUMF1
|aa_change=Ser63Asn
|aa_change_short=S63N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2819590
|overall_frequency_n=1690
|overall_frequency_d=8820
|overall_frequency=0.19161
|n_genomes=11
|n_genomes_annotated=0
|n_haplomes=12
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.697
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=4
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}