NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) AND Cutis laxa, autosomal recessive, type 1B
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498898.6
Allele description [Variation Report for NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)]
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)
Condition(s)
-
E1B28_000904 [Marasmius oreades]
E1B28_000904 [Marasmius oreades]Gene ID:66069980Gene
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Last Updated: Sep 29, 2024