NM_000181.4(GUSB):c.1809dup (p.Asn604fs) AND Mucopolysaccharidosis type 7
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003495893.1
Allele description [Variation Report for NM_000181.4(GUSB):c.1809dup (p.Asn604fs)]
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
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
Assertion and evidence details
Last Updated: Feb 20, 2024