NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) AND Deficiency of alpha-mannosidase
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000327235.21
Allele description [Variation Report for NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)]
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
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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AGENCOURT_14993942 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6986861 5'...
AGENCOURT_14993942 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:6986861 5', mRNA sequencegi|33422433|gnl|dbEST|19435499|gb|C 25.1|Nucleotide
-
JGI_CAAJ19653.rev NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7649371 3...
JGI_CAAJ19653.rev NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7649371 3', mRNA sequencegi|71462998|gnl|dbEST|30356306|gb|C 11.2|Nucleotide
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Taxonomy Links for GEO Profiles (Select 125830109) (1)
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Last Updated: Oct 13, 2024