NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002010354.4
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 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
- Name:
- Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000
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AL885529 XGC-egg Xenopus tropicalis cDNA clone TEgg013k08 3', mRNA sequence
AL885529 XGC-egg Xenopus tropicalis cDNA clone TEgg013k08 3', mRNA sequencegi|38676639|gnl|dbEST|20706814|emb| 529.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024