NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr) AND Multiple sulfatase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002942249.2
Allele description [Variation Report for NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr)]
NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr)
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
-
transmembrane protein 245 isoform X3 [Homo sapiens]
transmembrane protein 245 isoform X3 [Homo sapiens]gi|2462623905|ref|XP_054218567.1|Protein
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Last Updated: Sep 29, 2024