NM_000088.4(COL1A1):c.1155+18_1155+19insT AND Osteogenesis imperfecta type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003517763.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.1155+18_1155+19insT]
NM_000088.4(COL1A1):c.1155+18_1155+19insT
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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Homo sapiens hypothetical protein MGC4342 (MGC4342), mRNA
Homo sapiens hypothetical protein MGC4342 (MGC4342), mRNAgi|20149674|ref|NM_024329.2|Nucleotide
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TPA: Homo sapiens SNORD15A gene for small nucleolar RNA SNORD15A
TPA: Homo sapiens SNORD15A gene for small nucleolar RNA SNORD15Agi|820688013|tpe|LN847987.1|Nucleotide
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Homo sapiens genomic DNA, chromosome 11q clone:RP11-691P24, complete sequence
Homo sapiens genomic DNA, chromosome 11q clone:RP11-691P24, complete sequencegi|14245753|dbj|AP000744.4|Nucleotide
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Homo sapiens cytochrome P450 family 20 subfamily A member 1 (CYP20A1), RefSeqGen...
Homo sapiens cytochrome P450 family 20 subfamily A member 1 (CYP20A1), RefSeqGene on chromosome 2gi|189339219|ref|NG_007956.1|Nucleotide
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BTB/POZ domain-containing protein 16 isoform b [Homo sapiens]
BTB/POZ domain-containing protein 16 isoform b [Homo sapiens]gi|50345833|ref|NP_653188.2|Protein
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Last Updated: Sep 29, 2024