CLDN14 (claudin 14) - Rat Genome Database

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Gene: CLDN14 (claudin 14) Homo sapiens
Analyze
Symbol: CLDN14
Name: claudin 14
RGD ID: 1319353
HGNC Page HGNC
Description: Predicted to enable identical protein binding activity. Predicted to be involved in bicellular tight junction assembly and calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules. Located in endoplasmic reticulum and plasma membrane. Implicated in autosomal recessive nonsyndromic deafness 29.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: claudin-14; DFNB29
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2136,460,621 - 36,576,569 (-)EnsemblGRCh38hg38GRCh38
GRCh382136,460,621 - 36,576,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372137,832,919 - 37,948,867 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362136,754,789 - 36,774,258 (-)NCBINCBI36hg18NCBI36
Build 342136,754,788 - 36,774,258NCBI
Celera2123,031,290 - 23,147,246 (-)NCBI
Cytogenetic Map21q22.13NCBI
HuRef2123,308,758 - 23,424,553 (-)NCBIHuRef
CHM1_12137,394,668 - 37,510,188 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7644498   PMID:10690502   PMID:10830953   PMID:11247307   PMID:11283726   PMID:12231346   PMID:12475568   PMID:12477932   PMID:12791041   PMID:12975309   PMID:15489334   PMID:15769849  
PMID:15880785   PMID:16780588   PMID:18036336   PMID:19254696   PMID:19561606   PMID:19706201   PMID:20301607   PMID:20379614   PMID:20494980   PMID:20811388   PMID:21873635   PMID:22246673  
PMID:23166209   PMID:23235333   PMID:23322640   PMID:23590985   PMID:23991001   PMID:24249740   PMID:24325792   PMID:26107257   PMID:26842849   PMID:27107012   PMID:27207647   PMID:27629923  
PMID:27838790   PMID:28229505   PMID:29434063   PMID:29447821   PMID:30232134   PMID:31527509   PMID:32296183  


Genomics

Comparative Map Data
CLDN14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2136,460,621 - 36,576,569 (-)EnsemblGRCh38hg38GRCh38
GRCh382136,460,621 - 36,576,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372137,832,919 - 37,948,867 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362136,754,789 - 36,774,258 (-)NCBINCBI36hg18NCBI36
Build 342136,754,788 - 36,774,258NCBI
Celera2123,031,290 - 23,147,246 (-)NCBI
Cytogenetic Map21q22.13NCBI
HuRef2123,308,758 - 23,424,553 (-)NCBIHuRef
CHM1_12137,394,668 - 37,510,188 (-)NCBICHM1_1
Cldn14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391693,715,919 - 93,809,733 (-)NCBIGRCm39mm39
GRCm39 Ensembl1693,715,919 - 93,809,696 (-)Ensembl
GRCm381693,919,031 - 94,008,837 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1693,919,031 - 94,008,837 (-)EnsemblGRCm38mm10GRCm38
MGSCv371693,919,276 - 94,009,082 (-)NCBIGRCm37mm9NCBIm37
MGSCv361693,807,573 - 93,897,377 (-)NCBImm8
Celera1695,007,775 - 95,094,719 (-)NCBICelera
Cytogenetic Map16C4NCBI
Cldn14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21133,232,281 - 33,329,440 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1133,232,220 - 33,329,171 (-)Ensembl
Rnor_6.01134,132,581 - 34,142,813 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1134,132,581 - 34,142,753 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01137,721,801 - 37,732,031 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41134,142,138 - 34,151,928 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11134,198,380 - 34,208,171 (-)NCBI
Celera1135,202,958 - 35,212,543 (+)NCBICelera
Cytogenetic Map11q11NCBI
Cldn14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540735,641,560 - 35,728,105 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540735,641,560 - 35,728,105 (-)NCBIChiLan1.0ChiLan1.0
CLDN14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12136,186,950 - 36,206,412 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2136,187,306 - 36,188,025 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02122,830,770 - 22,946,594 (-)NCBIMhudiblu_PPA_v0panPan3
CLDN14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13131,677,410 - 31,725,794 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3131,677,733 - 31,678,446 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3130,738,456 - 30,787,847 (-)NCBI
ROS_Cfam_1.03130,979,723 - 31,029,111 (-)NCBI
ROS_Cfam_1.0 Ensembl3130,980,486 - 30,981,199 (-)Ensembl
UMICH_Zoey_3.13130,847,849 - 30,897,442 (-)NCBI
UNSW_CanFamBas_1.03130,860,674 - 30,910,421 (-)NCBI
UU_Cfam_GSD_1.03131,350,742 - 31,400,174 (-)NCBI
Cldn14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497131,240,241 - 31,336,678 (-)NCBI
SpeTri2.0NW_0049365006,207,856 - 6,227,582 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLDN14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13200,128,475 - 200,145,526 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113200,121,796 - 200,201,712 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213210,156,559 - 210,157,513 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLDN14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1280,457,907 - 80,535,855 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl280,458,270 - 80,458,989 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660548,299,812 - 8,377,996 (-)NCBIVero_WHO_p1.0
Cldn14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474527,058,441 - 27,074,288 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-51934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,886,871 - 37,887,093UniSTSGRCh37
Build 362136,808,741 - 36,808,963RGDNCBI36
Celera2123,085,229 - 23,085,445RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,362,531 - 23,362,747UniSTS
SHGC-9548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,882,239 - 37,882,429UniSTSGRCh37
Build 362136,804,109 - 36,804,299RGDNCBI36
Celera2123,080,597 - 23,080,787RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,357,899 - 23,358,089UniSTS
TNG Radiation Hybrid Map2113320.0UniSTS
SHGC-85062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,834,644 - 37,834,835UniSTSGRCh37
Build 362136,756,514 - 36,756,705RGDNCBI36
Celera2123,033,015 - 23,033,206RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,310,483 - 23,310,674UniSTS
TNG Radiation Hybrid Map2113308.0UniSTS
RH120859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,843,852 - 37,844,132UniSTSGRCh37
Build 362136,765,722 - 36,766,002RGDNCBI36
Celera2123,042,220 - 23,042,500RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,319,674 - 23,319,954UniSTS
TNG Radiation Hybrid Map2113312.0UniSTS
D21S1222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,928,029 - 37,928,265UniSTSGRCh37
Build 362136,849,899 - 36,850,135RGDNCBI36
Celera2123,126,384 - 23,126,612RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,403,692 - 23,403,920UniSTS
G34613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,936,067 - 37,936,202UniSTSGRCh37
Build 362136,857,937 - 36,858,072RGDNCBI36
Celera2123,134,435 - 23,134,570RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,411,743 - 23,411,878UniSTS
AFM205WB4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,886,870 - 37,887,053UniSTSGRCh37
Build 362136,808,740 - 36,808,923RGDNCBI36
Celera2123,085,228 - 23,085,405RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,362,530 - 23,362,707UniSTS
Whitehead-RH Map21183.5UniSTS
SHGC-51960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,891,072 - 37,891,215UniSTSGRCh37
Build 362136,812,942 - 36,813,085RGDNCBI36
Celera2123,089,420 - 23,089,563RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,366,730 - 23,366,873UniSTS
TNG Radiation Hybrid Map2113335.0UniSTS
G34616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,897,082 - 37,897,275UniSTSGRCh37
Build 362136,818,952 - 36,819,145RGDNCBI36
Celera2123,095,426 - 23,095,619RGD
Cytogenetic Map21q22.3UniSTS
HuRef2123,372,736 - 23,372,929UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1143
Count of miRNA genes:333
Interacting mature miRNAs:353
Transcripts:ENST00000342108, ENST00000399135, ENST00000399136, ENST00000399137, ENST00000399139, ENST00000478313
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 255 254 33 254 13 1 26 1 2
Low 67 171 194 208 458 187 579 21 322 233 133 80 24 83 409
Below cutoff 1519 1806 813 153 662 17 3128 1438 2088 124 1004 1041 141 960 2048 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF314090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI655909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ566765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ566766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY355348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY355349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342108   ⟹   ENSP00000339292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,460,621 - 36,576,569 (-)Ensembl
RefSeq Acc Id: ENST00000399135   ⟹   ENSP00000382087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,460,621 - 36,480,122 (-)Ensembl
RefSeq Acc Id: ENST00000399136   ⟹   ENSP00000382088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,460,621 - 36,542,600 (-)Ensembl
RefSeq Acc Id: ENST00000399137   ⟹   ENSP00000382090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,460,621 - 36,480,090 (-)Ensembl
RefSeq Acc Id: ENST00000399139   ⟹   ENSP00000382092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,460,621 - 36,466,441 (-)Ensembl
RefSeq Acc Id: NM_001146077   ⟹   NP_001139549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,460,621 - 36,576,569 (-)NCBI
GRCh372137,832,919 - 37,948,867 (-)ENTREZGENE
HuRef2123,308,758 - 23,424,553 (-)ENTREZGENE
CHM1_12137,394,668 - 37,510,188 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146078   ⟹   NP_001139550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,460,621 - 36,542,784 (-)NCBI
GRCh372137,832,919 - 37,948,867 (-)ENTREZGENE
HuRef2123,308,758 - 23,424,553 (-)ENTREZGENE
CHM1_12137,394,668 - 37,476,420 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146079   ⟹   NP_001139551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,460,621 - 36,480,122 (-)NCBI
GRCh372137,832,919 - 37,948,867 (-)ENTREZGENE
HuRef2123,308,758 - 23,424,553 (-)ENTREZGENE
CHM1_12137,394,668 - 37,414,139 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012130   ⟹   NP_036262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,460,621 - 36,466,467 (-)NCBI
GRCh372137,832,919 - 37,948,867 (-)ENTREZGENE
Build 362136,754,789 - 36,760,595 (-)NCBI Archive
HuRef2123,308,758 - 23,424,553 (-)ENTREZGENE
CHM1_12137,394,668 - 37,400,487 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144492   ⟹   NP_652763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,460,621 - 36,480,122 (-)NCBI
GRCh372137,832,919 - 37,948,867 (-)ENTREZGENE
Build 362136,754,789 - 36,774,258 (-)NCBI Archive
HuRef2123,308,758 - 23,424,553 (-)ENTREZGENE
CHM1_12137,394,668 - 37,414,139 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139549   ⟸   NM_001146077
- UniProtKB: O95500 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139550   ⟸   NM_001146078
- UniProtKB: O95500 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139551   ⟸   NM_001146079
- UniProtKB: O95500 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_652763   ⟸   NM_144492
- UniProtKB: O95500 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036262   ⟸   NM_012130
- UniProtKB: O95500 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000382087   ⟸   ENST00000399135
RefSeq Acc Id: ENSP00000382088   ⟸   ENST00000399136
RefSeq Acc Id: ENSP00000382090   ⟸   ENST00000399137
RefSeq Acc Id: ENSP00000382092   ⟸   ENST00000399139
RefSeq Acc Id: ENSP00000339292   ⟸   ENST00000342108

Promoters
RGD ID:13602766
Promoter ID:EPDNEW_H27567
Type:single initiation site
Name:CLDN14_1
Description:claudin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27568  EPDNEW_H27569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,466,467 - 36,466,527EPDNEW
RGD ID:13602768
Promoter ID:EPDNEW_H27568
Type:initiation region
Name:CLDN14_3
Description:claudin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27567  EPDNEW_H27569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,480,074 - 36,480,134EPDNEW
RGD ID:13602770
Promoter ID:EPDNEW_H27569
Type:multiple initiation site
Name:CLDN14_2
Description:claudin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27567  EPDNEW_H27568  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,487,419 - 36,487,479EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001146079.2(CLDN14):c.314C>T (p.Thr105Met) single nucleotide variant not provided [RCV000521959] Chr21:36461382 [GRCh38]
Chr21:37833680 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.398del (p.Met133fs) deletion Deafness, autosomal recessive 29 [RCV000005123] Chr21:36461298 [GRCh38]
Chr21:37833596 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) single nucleotide variant Deafness, autosomal recessive 29 [RCV000005124]|Deafness, autosomal recessive [RCV001291511]|Hearing impairment [RCV000417186] Chr21:36461442 [GRCh38]
Chr21:37833740 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) single nucleotide variant Deafness, autosomal recessive 29 [RCV000005125]|not provided [RCV001762034] Chr21:36461395 [GRCh38]
Chr21:37833693 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|uncertain significance
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) single nucleotide variant Deafness, autosomal recessive 29 [RCV001000269]|not provided [RCV000991809]|not specified [RCV000037059] Chr21:36461685 [GRCh38]
Chr21:37833983 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) single nucleotide variant Deafness, autosomal recessive 29 [RCV000288816]|not specified [RCV000037060] Chr21:36461453 [GRCh38]
Chr21:37833751 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001138769]|not provided [RCV000966676]|not specified [RCV000037061] Chr21:36461075 [GRCh38]
Chr21:37833373 [GRCh37]
Chr21:21q22.13
benign|uncertain significance
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001138768]|not provided [RCV000711209]|not specified [RCV000037062] Chr21:36461063 [GRCh38]
Chr21:37833361 [GRCh37]
Chr21:21q22.13
benign
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) single nucleotide variant Deafness, autosomal recessive 29 [RCV000384164]|not provided [RCV000991810]|not specified [RCV000037063] Chr21:36461633 [GRCh38]
Chr21:37833931 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) single nucleotide variant Deafness, autosomal recessive 29 [RCV000353929]|not specified [RCV000037064] Chr21:36461009 [GRCh38]
Chr21:37833307 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.690C>T (p.His230=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001138766]|not provided [RCV000725000]|not specified [RCV000037065] Chr21:36461006 [GRCh38]
Chr21:37833304 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 copy number gain See cases [RCV000053071] Chr21:36396699..38951223 [GRCh38]
Chr21:37768997..40323148 [GRCh37]
Chr21:36690867..39245018 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV000054673] Chr21:36461681 [GRCh38]
Chr21:37833979 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001143200]|not provided [RCV000054674] Chr21:36461678 [GRCh38]
Chr21:37833976 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.60C>T (p.Gly20=) single nucleotide variant not provided [RCV000054675] Chr21:36461636 [GRCh38]
Chr21:37833934 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.663G>A (p.Arg221=) single nucleotide variant not provided [RCV000054676] Chr21:36461033 [GRCh38]
Chr21:37833331 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) copy number loss Mental retardation, autosomal dominant 7 [RCV000190476] Chr21:37839410..41427526 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001141350]|not specified [RCV000150341] Chr21:36461327 [GRCh38]
Chr21:37833625 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) single nucleotide variant not provided [RCV000895619]|not specified [RCV000150342] Chr21:36461423 [GRCh38]
Chr21:37833721 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu) single nucleotide variant not specified [RCV000156406] Chr21:36461613 [GRCh38]
Chr21:37833911 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.471G>A (p.Lys157=) single nucleotide variant not provided [RCV000977853]|not specified [RCV000150340] Chr21:36461225 [GRCh38]
Chr21:37833523 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001141351]|not provided [RCV000966264]|not specified [RCV000155356] Chr21:36461396 [GRCh38]
Chr21:37833694 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) single nucleotide variant Deafness, autosomal recessive 29 [RCV000169747]|Hearing impairment [RCV001375151] Chr21:36461454 [GRCh38]
Chr21:37833752 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|not provided
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) single nucleotide variant Deafness, autosomal recessive 29 [RCV000169748] Chr21:36461529 [GRCh38]
Chr21:37833827 [GRCh37]
Chr21:21q22.13
pathogenic|not provided
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) single nucleotide variant Deafness, autosomal recessive 29 [RCV000169749] Chr21:36461002 [GRCh38]
Chr21:37833300 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|not provided
NM_001146079.2(CLDN14):c.*10G>C single nucleotide variant Deafness, autosomal recessive 29 [RCV000299110]|not provided [RCV001675657]|not specified [RCV000177401] Chr21:36460966 [GRCh38]
Chr21:37833264 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) single nucleotide variant not specified [RCV000215729] Chr21:36461137 [GRCh38]
Chr21:37833435 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.363C>T (p.Gly121=) single nucleotide variant not specified [RCV000222559] Chr21:36461333 [GRCh38]
Chr21:37833631 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) single nucleotide variant Deafness, autosomal recessive 29 [RCV000778641]|not provided [RCV001575532]|not specified [RCV000222605] Chr21:36461208 [GRCh38]
Chr21:37833506 [GRCh37]
Chr21:21q22.13
likely pathogenic|uncertain significance
NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=) single nucleotide variant not specified [RCV000216296] Chr21:36461201 [GRCh38]
Chr21:37833499 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) single nucleotide variant not provided [RCV001594877]|not specified [RCV000219015] Chr21:36461511 [GRCh38]
Chr21:37833809 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val) single nucleotide variant not specified [RCV000600674] Chr21:36461191 [GRCh38]
Chr21:37833489 [GRCh37]
Chr21:21q22.13
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.450G>A (p.Pro150=) single nucleotide variant not specified [RCV000245859] Chr21:36461246 [GRCh38]
Chr21:37833544 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.*51G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000276784]|not provided [RCV001597106] Chr21:36460925 [GRCh38]
Chr21:37833223 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.-290A>G single nucleotide variant Deafness, autosomal recessive 29 [RCV000358068] Chr21:36479703 [GRCh38]
Chr21:37852001 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.-75G>T single nucleotide variant Deafness, autosomal recessive 29 [RCV000314776]|not provided [RCV001566094] Chr21:36461770 [GRCh38]
Chr21:37834068 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) single nucleotide variant Deafness, autosomal recessive 29 [RCV000318936] Chr21:36461161 [GRCh38]
Chr21:37833459 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.*107G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000370840] Chr21:36460869 [GRCh38]
Chr21:37833167 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-492C>T single nucleotide variant Deafness, autosomal recessive 29 [RCV000272665] Chr21:36479905 [GRCh38]
Chr21:37852203 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-46G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000349612]|not provided [RCV000842360] Chr21:36461741 [GRCh38]
Chr21:37834039 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.-337C>G single nucleotide variant Deafness, autosomal recessive 29 [RCV000326596] Chr21:36479750 [GRCh38]
Chr21:37852048 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) single nucleotide variant not provided [RCV000317022] Chr21:36461290 [GRCh38]
Chr21:37833588 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) single nucleotide variant Deafness, autosomal recessive 29 [RCV000378098]|not provided [RCV001580485] Chr21:36461174 [GRCh38]
Chr21:37833472 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) single nucleotide variant Deafness, autosomal recessive 29 [RCV000378498] Chr21:36461401 [GRCh38]
Chr21:37833699 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-242C>T single nucleotide variant Deafness, autosomal recessive 29 [RCV000262046] Chr21:36479655 [GRCh38]
Chr21:37851953 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) single nucleotide variant Deafness, autosomal recessive 29 [RCV000263703] Chr21:36461109 [GRCh38]
Chr21:37833407 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) single nucleotide variant not provided [RCV000366051] Chr21:36461375 [GRCh38]
Chr21:37833673 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-390G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000362592] Chr21:36479803 [GRCh38]
Chr21:37852101 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) single nucleotide variant Deafness, autosomal recessive 29 [RCV000264904] Chr21:36461246 [GRCh38]
Chr21:37833544 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-264G>C single nucleotide variant Deafness, autosomal recessive 29 [RCV000303236] Chr21:36479677 [GRCh38]
Chr21:37851975 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.-297G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000266849] Chr21:36479710 [GRCh38]
Chr21:37852008 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-82+2024G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000350984] Chr21:36477471 [GRCh38]
Chr21:37849769 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-82+9G>C single nucleotide variant Deafness, autosomal recessive 29 [RCV000398970] Chr21:36479486 [GRCh38]
Chr21:37851784 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-645G>T single nucleotide variant Deafness, autosomal recessive 29 [RCV000386836] Chr21:36480058 [GRCh38]
Chr21:37852356 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-136G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000297209] Chr21:36479549 [GRCh38]
Chr21:37851847 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) single nucleotide variant Deafness, autosomal recessive 29 [RCV000323958] Chr21:36461318 [GRCh38]
Chr21:37833616 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-187C>T single nucleotide variant Deafness, autosomal recessive 29 [RCV000356835] Chr21:36479600 [GRCh38]
Chr21:37851898 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-54G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000394465] Chr21:36461749 [GRCh38]
Chr21:37834047 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-634G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV000327626] Chr21:36480047 [GRCh38]
Chr21:37852345 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) single nucleotide variant Deafness, autosomal recessive 29 [RCV000343853] Chr21:36461600 [GRCh38]
Chr21:37833898 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.401del (p.Val134fs) deletion not provided [RCV000598023] Chr21:36461295 [GRCh38]
Chr21:37833593 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) single nucleotide variant Deafness, autosomal recessive 29 [RCV000735776] Chr21:36461505 [GRCh38]
Chr21:37833803 [GRCh37]
Chr21:21q22.13
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.317G>A (p.Arg106His) single nucleotide variant not provided [RCV000479370] Chr21:36461379 [GRCh38]
Chr21:37833677 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) single nucleotide variant not specified [RCV000600618] Chr21:36461359 [GRCh38]
Chr21:37833657 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) single nucleotide variant not provided [RCV000896979]|not specified [RCV000607610] Chr21:36461594 [GRCh38]
Chr21:37833892 [GRCh37]
Chr21:21q22.13
likely benign
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 copy number gain See cases [RCV000512585] Chr21:36183329..42311538 [GRCh37]
Chr21:21q22.12-22.2
likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.*214dup duplication not provided [RCV001549583] Chr21:36460761..36460762 [GRCh38]
Chr21:37833059..37833060 [GRCh37]
Chr21:21q22.13
likely benign
NC_000021.8:g.(?_37133458)_(38311203_?)dup duplication Holocarboxylase synthetase deficiency [RCV000824666] Chr21:37133458..38311203 [GRCh37]
Chr21:21q22.12-22.13
uncertain significance
NM_001146079.2(CLDN14):c.525C>T (p.Leu175=) single nucleotide variant not provided [RCV000844408] Chr21:36461171 [GRCh38]
Chr21:37833469 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-130G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001136625] Chr21:36479543 [GRCh38]
Chr21:37851841 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-76C>T single nucleotide variant Deafness, autosomal recessive 29 [RCV001136623] Chr21:36461771 [GRCh38]
Chr21:37834069 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001138767] Chr21:36461015 [GRCh38]
Chr21:37833313 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001143199]|not provided [RCV001593290] Chr21:36461567 [GRCh38]
Chr21:37833865 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.-426C>T single nucleotide variant Deafness, autosomal recessive 29 [RCV001141464] Chr21:36479839 [GRCh38]
Chr21:37852137 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.294C>T (p.Ala98=) single nucleotide variant not provided [RCV001545814] Chr21:36461402 [GRCh38]
Chr21:37833700 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.591G>A (p.Pro197=) single nucleotide variant not provided [RCV000925264] Chr21:36461105 [GRCh38]
Chr21:37833403 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.606G>C (p.Thr202=) single nucleotide variant not provided [RCV000932137] Chr21:36461090 [GRCh38]
Chr21:37833388 [GRCh37]
Chr21:21q22.13
likely benign
NC_000021.9:g.36460620A>G single nucleotide variant Deafness, autosomal recessive 29 [RCV001138346] Chr21:36460620 [GRCh38]
Chr21:37832918 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.*66G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001138348] Chr21:36460910 [GRCh38]
Chr21:37833208 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) single nucleotide variant Deafness, autosomal recessive 29 [RCV001138770] Chr21:36461118 [GRCh38]
Chr21:37833416 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-436G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001141465] Chr21:36479849 [GRCh38]
Chr21:37852147 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) single nucleotide variant Deafness, autosomal recessive 29 [RCV001143198] Chr21:36461434 [GRCh38]
Chr21:37833732 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-75G>A single nucleotide variant not provided [RCV001590563] Chr21:36461770 [GRCh38]
Chr21:37834068 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) single nucleotide variant Deafness, autosomal recessive 29 [RCV001141349] Chr21:36461183 [GRCh38]
Chr21:37833481 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-81-184A>G single nucleotide variant not provided [RCV001682559] Chr21:36461960 [GRCh38]
Chr21:37834258 [GRCh37]
Chr21:21q22.13
benign
NM_001146079.2(CLDN14):c.*48G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001138349]|not provided [RCV001544893] Chr21:36460928 [GRCh38]
Chr21:37833226 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.*222T>C single nucleotide variant Deafness, autosomal recessive 29 [RCV001138347] Chr21:36460754 [GRCh38]
Chr21:37833052 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-82+2044A>C single nucleotide variant Deafness, autosomal recessive 29 [RCV001136624] Chr21:36477451 [GRCh38]
Chr21:37849749 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-445G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001141466] Chr21:36479858 [GRCh38]
Chr21:37852156 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-531G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001141467] Chr21:36479944 [GRCh38]
Chr21:37852242 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-5G>A single nucleotide variant Deafness, autosomal recessive 29 [RCV001143201]|not provided [RCV001571304] Chr21:36461700 [GRCh38]
Chr21:37833998 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_37133458)_(38311203_?)dup duplication Holocarboxylase synthetase deficiency [RCV001327816] Chr21:37133458..38311203 [GRCh37]
Chr21:21q22.12-22.13
uncertain significance
NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser) single nucleotide variant Alport syndrome [RCV001375234] Chr21:36461647 [GRCh38]
Chr21:37833945 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) single nucleotide variant Deafness, autosomal recessive 29 [RCV001287748] Chr21:36461266 [GRCh38]
Chr21:37833564 [GRCh37]
Chr21:21q22.13
uncertain significance
NC_000021.8:g.(?_37833274)_(39212984_?)dup duplication Mental retardation, autosomal dominant 7 [RCV001370514] Chr21:37833274..39212984 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr) single nucleotide variant Hearing impairment [RCV001375125] Chr21:36461527 [GRCh38]
Chr21:37833825 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) single nucleotide variant Hearing impairment [RCV001375278] Chr21:36461607 [GRCh38]
Chr21:37833905 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs) insertion Sensorineural hearing impairment [RCV001353201] Chr21:36461655..36461656 [GRCh38]
Chr21:37833953..37833954 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) single nucleotide variant Hearing impairment [RCV001375416] Chr21:36461332 [GRCh38]
Chr21:37833630 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.424G>A (p.Asp142Asn) single nucleotide variant not provided [RCV001758296] Chr21:36461272 [GRCh38]
Chr21:37833570 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) single nucleotide variant Deafness, autosomal recessive 29 [RCV001733755] Chr21:36461173 [GRCh38]
Chr21:37833471 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.490C>A (p.Leu164Met) single nucleotide variant not provided [RCV001764087] Chr21:36461206 [GRCh38]
Chr21:37833504 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2035 AgrOrtholog
COSMIC CLDN14 COSMIC
Ensembl Genes ENSG00000159261 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000339292 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382087 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382092 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399135 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399136 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399137 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399139 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000159261 GTEx
HGNC ID HGNC:2035 ENTREZGENE
Human Proteome Map CLDN14 Human Proteome Map
InterPro Claudin UniProtKB/Swiss-Prot
  Claudin14 UniProtKB/Swiss-Prot
  Claudin_CS UniProtKB/Swiss-Prot
  PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot
KEGG Report hsa:23562 UniProtKB/Swiss-Prot
NCBI Gene 23562 ENTREZGENE
OMIM 605608 OMIM
  614035 OMIM
PANTHER PTHR12002 UniProtKB/Swiss-Prot
  PTHR12002:SF99 UniProtKB/Swiss-Prot
Pfam PMP22_Claudin UniProtKB/Swiss-Prot
PharmGKB PA26561 PharmGKB
PROSITE CLAUDIN UniProtKB/Swiss-Prot
UniProt CLD14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE