NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249321.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)]
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
Condition(s)
- Name:
- Infantile cortical hyperostosis
- Synonyms:
- Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE; Caffey Disease
- Identifiers:
- MONDO: MONDO:0007244; MedGen: C0020497; Orphanet: 1310; OMIM: 114000
- Name:
- Ehlers-Danlos syndrome, classic type (cEDS)
- Identifiers:
- MONDO: MONDO:0007522; MedGen: C4225429; Orphanet: 287
- Name:
- Ehlers-Danlos syndrome, arthrochalasia type
- Synonyms:
- EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; Arthrochalasis multiplex congenita; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007525; MedGen: C4551623; Orphanet: 1899; Orphanet: 99875; Orphanet: 99876; OMIM: 130060
- 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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conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]
conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]gi|2237288970|ref|XP_047995982.1|Protein
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Last Updated: Sep 1, 2024