NM_000528.4(MAN2B1):c.312C>T (p.Val104=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002608839.3
Allele description [Variation Report for NM_000528.4(MAN2B1):c.312C>T (p.Val104=)]
NM_000528.4(MAN2B1):c.312C>T (p.Val104=)
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
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Accipiter gentilis chromosome 23, bAccGen1.1, whole genome shotgun sequence
Accipiter gentilis chromosome 23, bAccGen1.1, whole genome shotgun sequencegi|2277734289|gnl|ASM:GCF_929443794 R_23|ref|NC_064902.1||gpp|GPC_000014157.1||gnl|NCBI_GENOMES|125136Nucleotide
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Accipiter gentilis genome assembly, chromosome: 10
Accipiter gentilis genome assembly, chromosome: 10gi|2191808354|emb|OV839370.1|Nucleotide
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Last Updated: Sep 29, 2024