NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) AND 3-methylglutaconic aciduria, type VIIB
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000529792.10
Allele description [Variation Report for NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)]
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
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
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Ascocoryne sp. PJ-2021b voucher PDD:89103 small subunit ribosomal RNA gene, part...
Ascocoryne sp. PJ-2021b voucher PDD:89103 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2075999675|gb|MZ702527.1|Nucleotide
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Last Updated: Sep 29, 2024