NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) AND MASS syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000307321.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)]
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
Condition(s)
-
malate dehydrogenase 2 [Drosophila melanogaster]
malate dehydrogenase 2 [Drosophila melanogaster]gi|24647881|ref|NP_650696.1|Protein
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Last Updated: Oct 13, 2024