Genopathy
Gene-Disorder Association · Article
Gene
LOC130005443
ATAC-STARR-Seq Lymphoblastoid Active Region 4533
Disorder
Fanconi Anemia, Complementation Group F
First reported 1996
Key publication · disorder Assessment of the flexed-tail mouse as a possible model for Fanconi anemia: analysis of mitomycin C-induced micronuclei.Mutation research · 1996
Association Review

In brief

The association between LOC130005443 (ATAC-STARR-Seq Lymphoblastoid Active Region 4533) and Fanconi Anemia, Complementation Group F is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 19
Symptoms 49
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
LOC130005443

The gene

1 source summary

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

Request access
04
Fanconi Anemia, Complementation Group F

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

34 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

19 clinical variants

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

Request access
07
Provenance

References & sources

4 references

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

Request access