CLDN14 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CLDN14 (HGNC:2035) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- claudin 14
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB29
- Alias symbols
- No aliases found
- %HI
- 39.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.75(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.13
- Genomic Coordinates
-
GRCh37/hg19: chr21:37832919-37948867 NCBI Ensembl UCSC GRCh38/hg38: chr21:36460621-36576569 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001146079.2 ENST00000399135.6 (Read more about MANE Select)
- Function
- Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22818
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive nonsyndromic deafness 29 Monarch
HI Evidence Comments:
Variation in CLDN14 has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by severe to profound prelingual onset. Furthermore, the overall evidence that CLDN14, when altered via biallelic loss of function, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)