Genopathy
Gene-Disorder Association · Article
Gene
COL1A2-AS1
COL1A2 Antisense RNA 1
Disorder
Osteogenesis Imperfecta With Normal Sclerae, Dominant Form
First reported 1988
Key publication · disorder Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.The Journal of biological chemistry · 1988
Association Review

In brief

The association between COL1A2-AS1 (COL1A2 Antisense RNA 1) and Osteogenesis Imperfecta With Normal Sclerae, Dominant Form is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
COL1A2-AS1

The gene

A gene summary alongside the source descriptions it was distilled from.

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04
Osteogenesis Imperfecta With Normal Sclerae, Dominant Form

The disorder

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

1 reference

Every source and publication cited across this dossier, as one numbered reference list.

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