NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) AND 3-methylglutaconic aciduria, type VIIB
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001431871.6
Allele description [Variation Report for NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)]
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
Condition(s)
- Name:
- 3-methylglutaconic aciduria, type VIIB (MGCA7B)
- Synonyms:
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
- Identifiers:
- MONDO: MONDO:0014561; MedGen: C5676893; Orphanet: 445038; OMIM: 616271
-
hypothetical protein RW340905_070 [Synechococcus phage S-RIM2]
hypothetical protein RW340905_070 [Synechococcus phage S-RIM2]gi|1063205638|gb|AOO06786.1|Protein
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Last Updated: Feb 14, 2024