NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631885.20
Allele description [Variation Report for NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)]
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
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
-
Xenopus laevis hypothetical protein MGC53714, mRNA (cDNA clone MGC:53714 IMAGE:4...
Xenopus laevis hypothetical protein MGC53714, mRNA (cDNA clone MGC:53714 IMAGE:4889679), complete cdsgi|28302310|gb|BC046716.1|Nucleotide
-
far upstream element binding protein 1 S homeolog isoform X3 [Xenopus laevis]
far upstream element binding protein 1 S homeolog isoform X3 [Xenopus laevis]gi|1069350251|ref|XP_018114905.1|Protein
-
glutamate receptor 2 isoform 2 precursor [Mus musculus]
glutamate receptor 2 isoform 2 precursor [Mus musculus]gi|1832250286|ref|NP_038568.3|Protein
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Last Updated: Sep 29, 2024