NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg) AND Osteogenesis imperfecta with normal sclerae, dominant form
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002259408.2
Allele description [Variation Report for NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)]
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
Condition(s)
- Name:
- Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
- Synonyms:
- Osteogenesis imperfecta type 4; OI type 4; Osteogenesis imperfecta with normal sclerae; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220
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DET1 light-mediated development protein 1 / deetiolated1 (DET1) [Arabidopsis tha...
DET1 light-mediated development protein 1 / deetiolated1 (DET1) [Arabidopsis thaliana]Gene ID:826609Gene
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AT4G10180[sym] AND (alive[prop]) (1)
Gene
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Clostridium estertheticum strain CF003 contig00016, whole genome shotgun sequenc...
Clostridium estertheticum strain CF003 contig00016, whole genome shotgun sequencegi|2054896956|ref|NZ_JAHLDN01000001 gnl|WGS:NZ_JAHLDN01|contig00016Nucleotide
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Francisella tularensis subsp. holarctica strain FDC338 FDC338_9, whole genome sh...
Francisella tularensis subsp. holarctica strain FDC338 FDC338_9, whole genome shotgun sequencegi|1184599613|ref|NZ_MRKT01000009.1 |WGS:NZ_MRKT01|FDC338_9Nucleotide
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Francisella tularensis subsp. holarctica strain 16T1310 NODE_67_length_8320_cov_...
Francisella tularensis subsp. holarctica strain 16T1310 NODE_67_length_8320_cov_157.401, whole genome shotgun sequencegi|1805122882|ref|NZ_JAACLH01000006 gnl|WGS:NZ_JAACLH01|NODE_67_length_8320_cov_157.401Nucleotide
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Last Updated: Sep 29, 2024