NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001416343.7
Allele description [Variation Report for NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)]
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)
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
-
proteasome activator complex subunit 3-like protein [Sarcoptes scabiei]
proteasome activator complex subunit 3-like protein [Sarcoptes scabiei]gi|934152467|gb|KPM03284.1||gnl|WGS |QR98_0017140-RAProtein
-
Homo sapiens 56K autoantigen annexin XI gene mRNA, complete cds
Homo sapiens 56K autoantigen annexin XI gene mRNA, complete cdsgi|457128|gb|L19605.1|HUM56KAUTONucleotide
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Last Updated: Sep 29, 2024