NM_014251.3(SLC25A13):c.885T>A (p.Pro295=) AND Citrin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002848128.3
Allele description [Variation Report for NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)]
NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
Condition(s)
- Name:
- Citrin deficiency
- Identifiers:
- MONDO: MONDO:0016602; MedGen: C1997910
-
cytochrome b, partial (mitochondrion) [Apomys sacobianus]
cytochrome b, partial (mitochondrion) [Apomys sacobianus]gi|1569270109|gb|QBB01192.1|Protein
-
Related gene-specific medical variations for Gene (Select 53407) (1)
ClinVar
-
PMC Links for Gene (Select 53407) (46)
PMC
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Last Updated: Sep 29, 2024