NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter) AND Deficiency of alpha-mannosidase
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002281757.1
Allele description [Variation Report for NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)]
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
Condition(s)
- Name:
- Deficiency of alpha-mannosidase (MANSA)
- Synonyms:
- Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, alpha B lysosomal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009561; MedGen: C0024748; Orphanet: 61; OMIM: 248500
Assertion and evidence details
Last Updated: Sep 16, 2024