NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) AND Tatton-Brown-Rahman overgrowth syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001237885.7
Allele description [Variation Report for NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)]
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)
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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See more...Assertion and evidence details
Last Updated: Oct 8, 2024