NM_000365.6(TPI1):c.*219C>T AND Triosephosphate isomerase deficiency
- Germline classification:
- Uncertain significance (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:
- RCV001114509.5
Allele description [Variation Report for NM_000365.6(TPI1):c.*219C>T]
NM_000365.6(TPI1):c.*219C>T
Condition(s)
-
1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 1 [Mus musculus]
1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 isoform 1 [Mus musculus]gi|144226245|ref|NP_473429.2|Protein
-
PMC Links for GEO DataSets (Select 200022182) (1)
PMC
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See more...Assertion and evidence details
Last Updated: Aug 26, 2023