NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val) AND Osteogenesis imperfecta type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003832557.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)]
NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val)
Condition(s)
- Name:
- Osteogenesis imperfecta type I (OI1)
- Synonyms:
- OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200
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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
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rps27a [Paramormyrops kingsleyae]
rps27a [Paramormyrops kingsleyae]Gene ID:111852336Gene
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Last Updated: Sep 29, 2024