CLDN14-AS1

Gene

CLDN14 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

Autosomal recessive nonsyndromic hearing loss 29

Max pathogenic AF

—

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 CLDN14-AS1 variants in ClinVar

10 Conditions Cataloged
not providedTotal: 78
Autosomal recessive nonsyndromic hearing loss 29Total: 66
not specifiedTotal: 22
Inborn genetic diseasesTotal: 9
Hearing impairmentTotal: 5
Vein of Galen aneurysmal malformationTotal: 4
CLDN14-related conditionTotal: 2
Sensorineural hearing impairmentTotal: 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 0.0000525666

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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