NM_000202.8(IDS):c.336C>T (p.His112=) AND Mucopolysaccharidosis, MPS-III-A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001832219.1
Allele description [Variation Report for NM_000202.8(IDS):c.336C>T (p.His112=)]
NM_000202.8(IDS):c.336C>T (p.His112=)
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
-
acetylcholine receptor subunit alpha isoform X1 [Piliocolobus tephrosceles]
acetylcholine receptor subunit alpha isoform X1 [Piliocolobus tephrosceles]gi|1297708443|ref|XP_023041767.1|Protein
-
Glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) [Flagellimonas mariti...
Glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) [Flagellimonas maritima]gi|1409963308|gnl|Chunlab|HME9304_0 gb|AWX45389.1|Protein
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Last Updated: Sep 29, 2024