NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp) AND Multiple sulfatase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002800401.3
Allele description [Variation Report for NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp)]
NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp)
Condition(s)
- Name:
- Multiple sulfatase deficiency (MSD)
- Synonyms:
- Juvenile sulfatidosis; Mucosulfatidosis; Multiple Sulfatase Deficiency Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010088; MedGen: C0268263; Orphanet: 585; OMIM: 272200
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Tanysiptera sylvia voucher ANWC B32640 Fib5 gene, intron 5
Tanysiptera sylvia voucher ANWC B32640 Fib5 gene, intron 5gi|1407517236|gb|MG001238.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024