NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) AND Mucopolysaccharidosis type 7
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001984237.5
Allele description [Variation Report for NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)]
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
Condition(s)
- Name:
- Mucopolysaccharidosis type 7 (MPS7)
- Synonyms:
- MPS VII; Mucopolysaccharidosis type VII; MPS 7; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009662; MedGen: C0085132; Orphanet: 584; OMIM: 253220
-
RecName: Full=Protein BEX2; AltName: Full=Brain-expressed X-linked protein 2; Sh...
RecName: Full=Protein BEX2; AltName: Full=Brain-expressed X-linked protein 2; Short=hBex2gi|74752443|sp|Q9BXY8.1|BEX2_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 1, 2024