NM_012073.5(CCT5):c.440A>G (p.His147Arg) AND CCT5-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003952334.2
Allele description [Variation Report for NM_012073.5(CCT5):c.440A>G (p.His147Arg)]
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
Condition(s)
- Name:
- CCT5-related disorder
- Synonyms:
- CCT5-related condition
- Identifiers:
-
RecName: Full=Cathepsin B; AltName: Full=APP secretase; Short=APPS; AltName: Ful...
RecName: Full=Cathepsin B; AltName: Full=APP secretase; Short=APPS; AltName: Full=Cathepsin B1; Contains: RecName: Full=Cathepsin B light chain; Contains: RecName: Full=Cathepsin B heavy chain; Flags: Precursorgi|68067549|sp|P07858.3|CATB_HUMANProtein
-
rps27a [Paramormyrops kingsleyae]
rps27a [Paramormyrops kingsleyae]Gene ID:111852336Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024