NM_152594.3(SPRED1):c.-152C>A AND Legius syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000368494.5
Allele description [Variation Report for NM_152594.3(SPRED1):c.-152C>A]
NM_152594.3(SPRED1):c.-152C>A
Condition(s)
-
RecName: Full=Keratin, type I cytoskeletal 9; AltName: Full=Cytokeratin-9; Short...
RecName: Full=Keratin, type I cytoskeletal 9; AltName: Full=Cytokeratin-9; Short=CK-9; AltName: Full=Keratin-9; Short=K9gi|239938886|sp|P35527.3|K1C9_HUMANProtein
-
RecName: Full=Keratin, type I cytoskeletal 12; AltName: Full=Cytokeratin-12; Sho...
RecName: Full=Keratin, type I cytoskeletal 12; AltName: Full=Cytokeratin-12; Short=CK-12; AltName: Full=Keratin-12; Short=K12gi|2497269|sp|Q99456.1|K1C12_HUMANProtein
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Last Updated: Sep 1, 2024