NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) AND Osteogenesis imperfecta type I
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490713.9
Allele description [Variation Report for NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)]
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)
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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uncharacterized protein AT3G63050 [Arabidopsis thaliana]
uncharacterized protein AT3G63050 [Arabidopsis thaliana]gi|18412594|ref|NP_567136.1|Protein
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daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to ...
daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to SW:RCC_XENLA P25183 REGULATOR OF CHROMOSOME CONDENSATION, mRNA sequencegi|16439554|gnl|dbEST|10021876|gb|B 80.1|Nucleotide
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Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errorsgi|42490869|gb|BC066317.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 132512282) (0)
GEO Profiles
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RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]
RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]Gene ID:55213Gene
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Last Updated: Oct 13, 2024