NM_005989.4(AKR1D1):c.477C>T (p.Asp159=) AND Congenital bile acid synthesis defect 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001158878.4
Allele description [Variation Report for NM_005989.4(AKR1D1):c.477C>T (p.Asp159=)]
NM_005989.4(AKR1D1):c.477C>T (p.Asp159=)
Condition(s)
-
AP-1 complex subunit mu-1 isoform 1 [Homo sapiens]
AP-1 complex subunit mu-1 isoform 1 [Homo sapiens]gi|194473724|ref|NP_001123996.1|Protein
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Last Updated: Sep 29, 2024