NM_000138.5(FBN1):c.*57A>G AND Ectopia lentis 1, isolated, autosomal dominant
- Germline classification:
- Benign (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:
- RCV000398379.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*57A>G]
NM_000138.5(FBN1):c.*57A>G
Condition(s)
-
PNCK pregnancy up-regulated nonubiquitous CaM kinase [Homo sapiens]
PNCK pregnancy up-regulated nonubiquitous CaM kinase [Homo sapiens]Gene ID:139728Gene
-
139728[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024