FKBP14-AS1

Gene

FKBP14 antisense RNA 1, the group of Antisense RNAs

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Max pathogenic AF

—

Genomic locus

chr7:29,988,600-30,027,543

External References & Databases

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FKBP14-AS1 variants in ClinVar

8 Conditions Cataloged
Ehlers-Danlos syndrome, kyphoscoliotic and deafness typeTotal: 145
Cardiovascular phenotypeTotal: 58
not providedTotal: 40
Ehlers-Danlos syndromeTotal: 7
not specifiedTotal: 7
Inborn genetic diseasesTotal: 7
HypotoniaTotal: 1
Joint hypermobility;Pes valgus;Hypotonia;Thoracolumbar scoliosis;Congenital muscular dystrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000

Highest pathogenic variant AF is 0.0000197075

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
No transcripts match your selected source or search query.
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