NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) AND Familial hypokalemia-hypomagnesemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245164.3
Allele description [Variation Report for NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=)]
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=)
Condition(s)
-
RecName: Full=Eukaryotic translation elongation factor 1 epsilon-1; AltName: Ful...
RecName: Full=Eukaryotic translation elongation factor 1 epsilon-1; AltName: Full=Aminoacyl tRNA synthetase complex-interacting multifunctional protein 3; AltName: Full=Elongation factor p18; AltName: Full=Multisynthase complex auxiliary component p18gi|17378996|sp|O43324.1|MCA3_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024