NM_170707.4(LMNA):c.1517A>C (p.His506Pro) AND Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098894.4
Allele description [Variation Report for NM_170707.4(LMNA):c.1517A>C (p.His506Pro)]
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
Condition(s)
- Name:
- Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
- Identifiers:
- MedGen: CN239184
-
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Last Updated: Oct 20, 2024