NM_000199.5(SGSH):c.675C>T (p.Phe225=) AND Mucopolysaccharidosis, MPS-III-A
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633456.17
Allele description [Variation Report for NM_000199.5(SGSH):c.675C>T (p.Phe225=)]
NM_000199.5(SGSH):c.675C>T (p.Phe225=)
Condition(s)
- Name:
- Mucopolysaccharidosis, MPS-III-A (MPS3A)
- Synonyms:
- SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900
-
603494 (1)
OMIM
-
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Tr...
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Transforming growth factor-beta-activated kinase 1; Short=TGF-beta-activated kinase 1gi|12643557|sp|O43318.1|M3K7_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024