NM_000208.4(INSR):c.2718T>C (p.Ala906=) AND not provided
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000952778.8
Allele description [Variation Report for NM_000208.4(INSR):c.2718T>C (p.Ala906=)]
NM_000208.4(INSR):c.2718T>C (p.Ala906=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, m...
RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; AltName: Full=Pyruvate dehydrogenase kinase isoform 4; Flags: Precursorgi|3183120|sp|Q16654.1|PDK4_HUMANProtein
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Last Updated: Sep 29, 2024