NM_000088.4(COL1A1):c.697-2_697-1del AND Osteogenesis imperfecta type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001948547.3
Allele description [Variation Report for NM_000088.4(COL1A1):c.697-2_697-1del]
NM_000088.4(COL1A1):c.697-2_697-1del
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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029B_S24 RNA-seq
029B_S24 RNA-seqbiosample
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Acidovorax sp. strain:SUPP1855
Acidovorax sp. strain:SUPP1855Draft genome sequence of Acidovorax sp. SUPP1855BioProject
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Profile neighbors for GEO Profiles (Select 71226354) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 5766272) (20)
GEO Profiles
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Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024