Genopathy
Gene-Disorder Association · Article
Gene
LOC126807136
MED14-Independent Group 3 Enhancer GRCh37_chr4:114274931-114276130
Disorder
Long Qt Syndrome
First reported 1957
Key publication · disorder Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.American heart journal · 1957
Association Review

In brief

The association between LOC126807136 (MED14-Independent Group 3 Enhancer GRCh37_chr4:114274931-114276130) and Long Qt Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 213
Symptoms 1
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
LOC126807136

The gene

1 source summary

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

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04
Long Qt Syndrome

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

213 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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