NM_000138.5(FBN1):c.4460-8G>A AND not specified
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 3, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000507229.8
Allele description [Variation Report for NM_000138.5(FBN1):c.4460-8G>A]
NM_000138.5(FBN1):c.4460-8G>A
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Chymotrypsin-like protease CTRL-1; Flags: Precursor
RecName: Full=Chymotrypsin-like protease CTRL-1; Flags: Precursorgi|729224|sp|P40313.1|CTRL_HUMANProtein
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Last Updated: Aug 25, 2024