NM_000315.4(PTH):c.123C>A (p.Asn41Lys) AND Familial hypoparathyroidism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001108379.4
Allele description [Variation Report for NM_000315.4(PTH):c.123C>A (p.Asn41Lys)]
NM_000315.4(PTH):c.123C>A (p.Asn41Lys)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024