NM_000088.4(COL1A1):c.1128del (p.Gly377fs) AND Osteogenesis imperfecta type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000703850.6
Allele description [Variation Report for NM_000088.4(COL1A1):c.1128del (p.Gly377fs)]
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)
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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Cirrhipathes anguina isolate TMKO-114 trnW-nad2 intergenic spacer, partial sequence; and NADH dehydrogenase subunit 2 (nad2) gene, partial cds; mitochondrialgi|526786700|gb|KF054549.1|Nucleotide
-
Arene cruentata isolate ACRU.BDT.1 28S ribosomal RNA gene, partial sequence
Arene cruentata isolate ACRU.BDT.1 28S ribosomal RNA gene, partial sequencegi|189170316|gb|EU530005.1|Nucleotide
-
Arene cruentata isolate ACRU.BDT.1 18S ribosomal RNA gene, partial sequence
Arene cruentata isolate ACRU.BDT.1 18S ribosomal RNA gene, partial sequencegi|189170371|gb|EU530060.1|Nucleotide
-
JGI_CAAN5380.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7691163 5',...
JGI_CAAN5380.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7691163 5', mRNA sequencegi|58705769|gnl|dbEST|27622932|gb|C 13.1|Nucleotide
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Last Updated: Sep 29, 2024