Genopathy
Gene-Disorder Association · Article
Gene
ACTC1
Actin Alpha Cardiac Muscle 1
First reported 1950
Manually curated
Association Review

In brief

The association between ACTC1 (Actin Alpha Cardiac Muscle 1) and Atrial Heart Septal Defect is reported, with clinical genetic testing available.

Sources 1
Clinical variants 39
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
ACTC1

The gene

1 source summary

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

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04
Atrial Heart Septal Defect

The disorder

7 database identifiers

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

39 clinical variants

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

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06
Provenance

References & sources

3 references

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

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