NM_182760.4(SUMF1):c.*819G>A AND Multiple sulfatase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260481.5
Allele description [Variation Report for NM_182760.4(SUMF1):c.*819G>A]
NM_182760.4(SUMF1):c.*819G>A
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
-
Homo sapiens Riplet mRNA for Riplet, complete cds
Homo sapiens Riplet mRNA for Riplet, complete cdsgi|213972518|dbj|AB470605.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023