NM_000388.4(CASR):c.571G>A (p.Glu191Lys) AND Autosomal dominant hypocalcemia 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 10, 1996
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000008828.4
Allele description [Variation Report for NM_000388.4(CASR):c.571G>A (p.Glu191Lys)]
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)
Condition(s)
-
Mus musculus HECT domain E3 ubiquitin protein ligase 2 (Hectd2), transcript vari...
Mus musculus HECT domain E3 ubiquitin protein ligase 2 (Hectd2), transcript variant 2, mRNAgi|254939512|ref|NM_172637.3|Nucleotide
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Last Updated: Aug 5, 2023