NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 26, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002076563.6
Allele description [Variation Report for NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=)]
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=)
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
-
translation elongation factor 1-alpha, partial [Clonostachys grammicosporopsis]
translation elongation factor 1-alpha, partial [Clonostachys grammicosporopsis]gi|2551847183|gb|WKU84990.1|Protein
-
SRP257235 (39)
SRA
-
ACTG1P10 actin gamma 1 pseudogene 10 [Homo sapiens]
ACTG1P10 actin gamma 1 pseudogene 10 [Homo sapiens]Gene ID:83Gene
-
ACTGP10 AND (alive[prop]) (1)
Gene
-
RecName: Full=Probable carboxypeptidase MCYG_07204; AltName: Full=Peptidase M20 ...
RecName: Full=Probable carboxypeptidase MCYG_07204; AltName: Full=Peptidase M20 domain-containing protein MCYG_07204; Flags: Precursorgi|342165221|sp|C5FXY7.1|P20D1_ARTOProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024