NM_003500.4(ACOX2):c.161-57C>G AND Congenital bile acid synthesis defect 6
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001548952.2
Allele description [Variation Report for NM_003500.4(ACOX2):c.161-57C>G]
NM_003500.4(ACOX2):c.161-57C>G
Condition(s)
-
alpha-1-antitrypsin precursor [Homo sapiens]
alpha-1-antitrypsin precursor [Homo sapiens]gi|189163542|ref|NP_001121179.1|Protein
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Last Updated: Sep 29, 2024