NM_002617.4(PEX10):c.475G>C (p.Ala159Pro) AND Peroxisome biogenesis disorder, complementation group 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002624542.2
Allele description [Variation Report for NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)]
NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)
Condition(s)
- Name:
- Peroxisome biogenesis disorder, complementation group 7 (CG7)
- Synonyms:
- Peroxisome biogenesis disorder, complementation group B
- Identifiers:
- MedGen: C1864399
-
Synthetic construct Homo sapiens clone IMAGE:100069156, MGC:199167 dimethylglyci...
Synthetic construct Homo sapiens clone IMAGE:100069156, MGC:199167 dimethylglycine dehydrogenase (DMGDH) mRNA, encodes complete proteingi|225000203|gb|BC172462.1|Nucleotide
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Last Updated: Sep 29, 2024