NM_000088.4(COL1A1):c.4249-14C>T AND Osteogenesis imperfecta type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002142738.6
Allele description [Variation Report for NM_000088.4(COL1A1):c.4249-14C>T]
NM_000088.4(COL1A1):c.4249-14C>T
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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Chromosome neighbors for GEO Profiles (Select 46502023) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 46503964) (20)
GEO Profiles
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Sedum stefco isolate DNA_193 maturase K (matK) gene, partial cds; chloroplast
Sedum stefco isolate DNA_193 maturase K (matK) gene, partial cds; chloroplastgi|1218185894|gb|KX452269.1|Nucleotide
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caf1 CCR4-Not complex CAF1 family ribonuclease subunit 7/8 [Schizosaccharomyces ...
caf1 CCR4-Not complex CAF1 family ribonuclease subunit 7/8 [Schizosaccharomyces pombe]Gene ID:2539041Gene
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Gene Links for GEO Profiles (Select 46503408) (1)
Gene
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Last Updated: Sep 29, 2024