NM_000143.4(FH):c.692T>C (p.Ile231Thr) AND Fumarase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000804121.4
Allele description [Variation Report for NM_000143.4(FH):c.692T>C (p.Ile231Thr)]
NM_000143.4(FH):c.692T>C (p.Ile231Thr)
Condition(s)
-
RecName: Full=NUAK family SNF1-like kinase 1; AltName: Full=AMPK-related protein...
RecName: Full=NUAK family SNF1-like kinase 1; AltName: Full=AMPK-related protein kinase 5; Short=ARK5; AltName: Full=Omphalocele kinase 1gi|14424095|sp|O60285.1|NUAK1_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 1, 2024