NM_000088.4(COL1A1):c.1149C>T (p.Gly383=) AND Osteogenesis imperfecta type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002124252.6
Allele description [Variation Report for NM_000088.4(COL1A1):c.1149C>T (p.Gly383=)]
NM_000088.4(COL1A1):c.1149C>T (p.Gly383=)
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
-
AGENCOURT_18792183 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7205942 5', mR...
AGENCOURT_18792183 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7205942 5', mRNA sequencegi|42808984|gnl|dbEST|21699090|gb|C 88.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024