NM_014251.3(SLC25A13):c.874C>A (p.Arg292=) AND Citrin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002658369.3
Allele description [Variation Report for NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)]
NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)
Condition(s)
- Name:
- Citrin deficiency
- Identifiers:
- MONDO: MONDO:0016602; MedGen: C1997910
-
flagellar transcriptional regulator FlhD [Burkholderia stagnalis]
flagellar transcriptional regulator FlhD [Burkholderia stagnalis]gi|648264199|ref|WP_026045348.1|Protein
-
hypothetical protein [Burkholderia stagnalis]
hypothetical protein [Burkholderia stagnalis]gi|1525859270|ref|WP_124483233.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024