NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) AND Mucopolysaccharidosis, MPS-III-A
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665964.14
Allele description
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
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
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Comparison of the REFLUX trial with other randomised trials of laparoscopic surg...
Comparison of the REFLUX trial with other randomised trials of laparoscopic surgery compared with medical management for gastro-oesophageal reflux disease - Clinical and economic evaluation of laparoscopic surgery compared with medical management for gastro-oesophageal reflux disease: 5-year follow-up of multicentre randomised trial (the REFLUX trial)
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OMIM Links for Protein (Select 170295834) (5)
OMIM
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NADH dehydrogenase subunit 2, partial (mitochondrion) [Eutropis multicarinata]
NADH dehydrogenase subunit 2, partial (mitochondrion) [Eutropis multicarinata]gi|564732299|gb|AHC00223.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024