NM_054012.4(ASS1):c.586G>A (p.Glu196Lys) AND Citrullinemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001216275.7
Allele description [Variation Report for NM_054012.4(ASS1):c.586G>A (p.Glu196Lys)]
NM_054012.4(ASS1):c.586G>A (p.Glu196Lys)
Condition(s)
-
603494 (1)
OMIM
-
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Tr...
RecName: Full=Mitogen-activated protein kinase kinase kinase 7; AltName: Full=Transforming growth factor-beta-activated kinase 1; Short=TGF-beta-activated kinase 1gi|12643557|sp|O43318.1|M3K7_HUMANProtein
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Last Updated: Sep 29, 2024