Genopathy
Gene-Disorder Association · Article
Gene
SCN5A
Sodium Voltage-Gated Channel Alpha Subunit 5
Disorder
Atrioventricular Block
First reported 2001
Supporting publications 4
Key publication · gene–disorder Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.Circulation research · 2001
Key publication · disorder [Total atrioventricular block following blind gunshot injury of the heart].Klinicheskaia meditsina · 1950
Manually curated
Association Review

In brief

The association between SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) and Atrioventricular Block is reported, with clinical genetic testing available.

Sources 1
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 4
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
SCN5A

The gene

2 source summaries

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

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04
Atrioventricular Block

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

2 clinical variants

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

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06
Literature

Reading

4 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

8 references

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

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