NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) AND Familial hypokalemia-hypomagnesemia
- Germline classification:
- Likely pathogenic (2 submissions)
- 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:
- RCV002245165.4
Allele description [Variation Report for NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)]
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)
Condition(s)
-
Homo sapiens Josephin domain containing 2, mRNA (cDNA clone MGC:70603 IMAGE:6503...
Homo sapiens Josephin domain containing 2, mRNA (cDNA clone MGC:70603 IMAGE:6503623), complete cdsgi|38383081|gb|BC062416.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024