KCNH5 (potassium voltage-gated channel subfamily H member 5) - Rat Genome Database
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Gene: KCNH5 (potassium voltage-gated channel subfamily H member 5) Homo sapiens
Analyze
Symbol: KCNH5
Name: potassium voltage-gated channel subfamily H member 5
RGD ID: 731415
HGNC Page HGNC
Description: Predicted to have calmodulin binding activity and ion channel binding activity. Involved in regulation of G2/M transition of mitotic cell cycle. Localizes to cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EAG2; ether-a-go-go 2; ether-a-go-go potassium channel 2; ether-a-go-go-related potassium channel 2; H-EAG2; hEAG2; Kv10.2; potassium channel HEAG2; potassium channel, voltage gated eag related subfamily H, member 5; potassium voltage-gated channel, subfamily H (eag-related), member 5; voltage-gated potassium channel EAG2; voltage-gated potassium channel subunit Kv10.2
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 Ensembl1462,699,464 - 63,102,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381462,699,464 - 63,045,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371463,166,182 - 63,512,176 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361462,243,698 - 62,638,337 (-)NCBINCBI36hg18NCBI36
Build 341462,248,710 - 62,638,337NCBI
Celera1443,224,258 - 43,619,167 (-)NCBI
Cytogenetic Map14q23.2NCBI
HuRef1443,338,760 - 43,678,420 (-)NCBIHuRef
CHM1_11463,112,492 - 63,451,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10524757   PMID:11943152   PMID:12135768   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16382104   PMID:18349282   PMID:18458804   PMID:19172261   PMID:19850283  
PMID:20379614   PMID:20800603   PMID:21873635   PMID:22589738   PMID:22792721   PMID:22855790   PMID:23377640   PMID:23647072   PMID:24133262   PMID:24348519   PMID:24759919   PMID:25293881  
PMID:25542181   PMID:26258683   PMID:26503718   PMID:29987050   PMID:30021884   PMID:32097463  


Genomics

Comparative Map Data
KCNH5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1462,699,464 - 63,102,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381462,699,464 - 63,045,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371463,166,182 - 63,512,176 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361462,243,698 - 62,638,337 (-)NCBINCBI36hg18NCBI36
Build 341462,248,710 - 62,638,337NCBI
Celera1443,224,258 - 43,619,167 (-)NCBI
Cytogenetic Map14q23.2NCBI
HuRef1443,338,760 - 43,678,420 (-)NCBIHuRef
CHM1_11463,112,492 - 63,451,134 (-)NCBICHM1_1
Kcnh5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391274,943,991 - 75,224,625 (-)NCBIGRCm39mm39
GRCm39 Ensembl1274,943,994 - 75,224,106 (-)Ensembl
GRCm381274,897,217 - 75,177,332 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1274,897,220 - 75,177,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv371275,998,204 - 76,278,319 (-)NCBIGRCm37mm9NCBIm37
MGSCv361275,816,060 - 76,096,172 (-)NCBImm8
Celera1275,988,289 - 76,268,710 (-)NCBICelera
Cytogenetic Map12C3NCBI
Kcnh5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2693,615,174 - 93,908,107 (-)NCBI
Rnor_6.0 Ensembl697,872,831 - 98,157,087 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0697,872,831 - 98,157,087 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06107,294,666 - 107,578,241 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4697,484,188 - 97,772,082 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1697,487,643 - 97,775,538 (-)NCBI
Celera692,059,360 - 92,339,391 (-)NCBICelera
Cytogenetic Map6q24NCBI
Kcnh5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554666,704,364 - 7,040,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554666,704,431 - 7,042,727 (+)NCBIChiLan1.0ChiLan1.0
KCNH5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11461,560,591 - 61,889,137 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1461,560,600 - 61,889,137 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01443,297,114 - 43,633,275 (-)NCBIMhudiblu_PPA_v0panPan3
KCNH5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl837,434,922 - 37,710,330 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1837,429,677 - 37,710,409 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Kcnh5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364956,685,220 - 6,967,921 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1194,965,730 - 195,262,047 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11194,965,696 - 195,264,046 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNH5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12439,856,837 - 40,206,607 (-)NCBI
Kcnh5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473437,990,840 - 38,387,580 (+)NCBI

Position Markers
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,532,853 - 63,533,118UniSTSGRCh37
Build 361462,602,606 - 62,602,871RGDNCBI36
Celera1443,583,439 - 43,583,702RGD
HuRef1443,699,741 - 43,700,004UniSTS
Marshfield Genetic Map1468.59UniSTS
Marshfield Genetic Map1468.59RGD
Genethon Genetic Map1458.5UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS
D14S1059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,548,038 - 63,548,186UniSTSGRCh37
Build 361462,617,791 - 62,617,939RGDNCBI36
Celera1443,598,622 - 43,598,768RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,714,924 - 43,715,070UniSTS
Marshfield Genetic Map1468.59RGD
Marshfield Genetic Map1468.59UniSTS
Genethon Genetic Map1458.5UniSTS
deCODE Assembly Map1462.58UniSTS
Whitehead-YAC Contig Map14 UniSTS
RH91702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,174,001 - 63,174,133UniSTSGRCh37
Build 361462,243,754 - 62,243,886RGDNCBI36
Celera1443,224,314 - 43,224,446RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,339,474 - 43,339,606UniSTS
GeneMap99-GB4 RH Map14143.39UniSTS
RH123385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,462,784 - 63,463,129UniSTSGRCh37
Build 361462,532,537 - 62,532,882RGDNCBI36
Celera1443,513,381 - 43,513,726RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,629,246 - 43,629,591UniSTS
TNG Radiation Hybrid Map1419977.0UniSTS
SHGC-52823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,401,659 - 63,401,796UniSTSGRCh37
Build 361462,471,412 - 62,471,549RGDNCBI36
Celera1443,452,260 - 43,452,397RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,568,124 - 43,568,261UniSTS
TNG Radiation Hybrid Map1419935.0UniSTS
GeneMap99-G3 RH Map142127.0UniSTS
KCNH5_1311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,174,099 - 63,174,927UniSTSGRCh37
Build 361462,243,852 - 62,244,680RGDNCBI36
Celera1443,224,412 - 43,225,240RGD
HuRef1443,339,572 - 43,340,400UniSTS
D14S1251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,173,996 - 63,174,146UniSTSGRCh37
Build 361462,243,749 - 62,243,899RGDNCBI36
Celera1443,224,309 - 43,224,459RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,339,469 - 43,339,619UniSTS
Whitehead-YAC Contig Map14 UniSTS
UniSTS:496048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,417,135 - 63,417,227UniSTSGRCh37
Build 361462,486,888 - 62,486,980RGDNCBI36
Celera1443,467,731 - 43,467,823RGD
HuRef1443,583,595 - 43,583,687UniSTS
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1032
Count of miRNA genes:682
Interacting mature miRNAs:777
Transcripts:ENST00000322893, ENST00000394964, ENST00000394968, ENST00000420622
Prediction methods:Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 2 9
Low 17 5 153 8 23 8 91 18 1086 11 107 89 2 1 124 3
Below cutoff 1748 773 532 159 387 61 1788 1075 2092 104 924 679 102 530 1032 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF418206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF472412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW628656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU147537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322893   ⟹   ENSP00000321427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1462,699,464 - 63,045,458 (-)Ensembl
RefSeq Acc Id: ENST00000394964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1462,949,818 - 63,102,037 (-)Ensembl
RefSeq Acc Id: ENST00000394968   ⟹   ENSP00000378419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1462,712,240 - 63,101,866 (-)Ensembl
RefSeq Acc Id: ENST00000420622   ⟹   ENSP00000395439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1462,707,567 - 63,045,186 (-)Ensembl
RefSeq Acc Id: NM_139318   ⟹   NP_647479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381462,699,464 - 63,045,458 (-)NCBI
GRCh371463,173,291 - 63,511,956 (-)NCBI
Build 361462,243,698 - 62,581,708 (-)NCBI Archive
Celera1443,224,258 - 43,619,167 (-)RGD
HuRef1443,338,760 - 43,678,420 (-)NCBI
CHM1_11463,112,492 - 63,451,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172375   ⟹   NP_758963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381462,699,464 - 63,045,458 (-)NCBI
Build 361462,243,698 - 62,581,708 (-)NCBI Archive
Celera1443,224,258 - 43,619,167 (-)RGD
HuRef1443,338,760 - 43,678,420 (-)NCBI
CHM1_11463,112,496 - 63,451,134 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_647479   ⟸   NM_139318
- Peptide Label: isoform 1
- UniProtKB: Q8NCM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758963   ⟸   NM_172375
- Peptide Label: isoform 3
- UniProtKB: Q8NCM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000321427   ⟸   ENST00000322893
RefSeq Acc Id: ENSP00000378419   ⟸   ENST00000394968
RefSeq Acc Id: ENSP00000395439   ⟸   ENST00000420622
Protein Domains
PAC   PAS

Promoters
RGD ID:6791689
Promoter ID:HG_KWN:19537
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000394964,   NM_172375,   OTTHUMT00000072520
Position:
Human AssemblyChrPosition (strand)Source
Build 361462,581,476 - 62,582,477 (-)MPROMDB
RGD ID:6791688
Promoter ID:HG_KWN:19538
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_172376,   UC001XGA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361462,638,506 - 62,639,006 (-)MPROMDB
RGD ID:7227815
Promoter ID:EPDNEW_H19653
Type:initiation region
Name:KCNH5_1
Description:potassium voltage-gated channel subfamily H member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381463,045,427 - 63,045,487EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139318.5(KCNH5):c.810C>T (p.Phe270=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000546523] Chr14:62981004 [GRCh38]
Chr14:63447722 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.733A>G (p.Ile245Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000542290] Chr14:62981081 [GRCh38]
Chr14:63447799 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000548241] Chr14:62707843 [GRCh38]
Chr14:63174561 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2280C>T (p.Pro760=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000550850] Chr14:62708195 [GRCh38]
Chr14:63174913 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000528893] Chr14:62707591 [GRCh38]
Chr14:63174309 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000545767] Chr14:62950499 [GRCh38]
Chr14:63417217 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2515C>T (p.Leu839=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000526979] Chr14:62707960 [GRCh38]
Chr14:63174678 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000525155] Chr14:62981264 [GRCh38]
Chr14:63447982 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000701370]|not provided [RCV000087147] Chr14:62950522 [GRCh38]
Chr14:63417240 [GRCh37]
Chr14:14q23.2		 pathogenic|uncertain significance
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3		 pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3		 pathogenic
NM_139318.4(KCNH5):c.1591G>A (p.Asp531Asn) single nucleotide variant Malignant melanoma [RCV000070565] Chr14:62802560 [GRCh38]
Chr14:63269278 [GRCh37]
Chr14:62339031 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1369+50C>T single nucleotide variant Malignant melanoma [RCV000070566] Chr14:62950083 [GRCh38]
Chr14:63416801 [GRCh37]
Chr14:62486554 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.886G>A (p.Asp296Asn) single nucleotide variant Malignant melanoma [RCV000070567] Chr14:62980928 [GRCh38]
Chr14:63447646 [GRCh37]
Chr14:62517399 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1824G>A (p.Gly608=) single nucleotide variant Malignant melanoma [RCV000062771] Chr14:62779923 [GRCh38]
Chr14:63246641 [GRCh37]
Chr14:62316394 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1008G>A (p.Arg336=) single nucleotide variant Malignant melanoma [RCV000062772] Chr14:62950494 [GRCh38]
Chr14:63417212 [GRCh37]
Chr14:62486965 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.804G>A (p.Thr268=) single nucleotide variant Malignant melanoma [RCV000062773] Chr14:62981010 [GRCh38]
Chr14:63447728 [GRCh37]
Chr14:62517481 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.479G>A (p.Arg160Gln) single nucleotide variant Malignant melanoma [RCV000062774] Chr14:62987142 [GRCh38]
Chr14:63453860 [GRCh37]
Chr14:62523613 [NCBI36]
Chr14:14q23.2		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2		 pathogenic
GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 copy number loss See cases [RCV000138250] Chr14:62252700..65753416 [GRCh38]
Chr14:62719418..66220134 [GRCh37]
Chr14:61789171..65289887 [NCBI36]
Chr14:14q23.2-23.3		 pathogenic
GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3 copy number gain See cases [RCV000140165] Chr14:62330001..63219846 [GRCh38]
Chr14:62796719..63686564 [GRCh37]
Chr14:61866472..62756317 [NCBI36]
Chr14:14q23.2		 likely benign|uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.2(chr14:62848375-63094121)x1 copy number loss See cases [RCV000143560] Chr14:62848375..63094121 [GRCh38]
Chr14:63315093..63560839 [GRCh37]
Chr14:62384846..62630592 [NCBI36]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-9C>G single nucleotide variant not provided [RCV000861136]|not specified [RCV000192806] Chr14:62981273 [GRCh38]
Chr14:63447991 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.198-10del deletion Infantile epileptic dyskinetic encephalopathy [RCV000230571] Chr14:63006482 [GRCh38]
Chr14:63473200 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000234571] Chr14:62707585 [GRCh38]
Chr14:63174303 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.522G>C (p.Val174=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000554094] Chr14:62987099 [GRCh38]
Chr14:63453817 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000550080] Chr14:62802531 [GRCh38]
Chr14:63269249 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000554901] Chr14:62981048 [GRCh38]
Chr14:63447766 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-3del deletion Infantile epileptic dyskinetic encephalopathy [RCV000533689] Chr14:63006475 [GRCh38]
Chr14:63473193 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.775C>T (p.Leu259=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000531051] Chr14:62981039 [GRCh38]
Chr14:63447757 [GRCh37]
Chr14:14q23.2		 benign
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000462706] Chr14:62950404 [GRCh38]
Chr14:63417122 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.1812G>A (p.Val604=) single nucleotide variant not provided [RCV000470491] Chr14:62802339 [GRCh38]
Chr14:63269057 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1369+7A>G single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000463785] Chr14:62950126 [GRCh38]
Chr14:63416844 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000475118] Chr14:62708361 [GRCh38]
Chr14:63175079 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.171C>T (p.Asp57=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000456732] Chr14:63016857 [GRCh38]
Chr14:63483575 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+7G>T single nucleotide variant not provided [RCV000471592] Chr14:62849646 [GRCh38]
Chr14:63316364 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1935C>G (p.Ala645=) single nucleotide variant not provided [RCV000464424] Chr14:62779812 [GRCh38]
Chr14:63246530 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.147A>G (p.Lys49=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000457834] Chr14:63016881 [GRCh38]
Chr14:63483599 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000468994] Chr14:62708378 [GRCh38]
Chr14:63175096 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.528T>C (p.His176=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000469323] Chr14:62987093 [GRCh38]
Chr14:63453811 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000458334] Chr14:62802471 [GRCh38]
Chr14:63269189 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.819C>T (p.Pro273=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000462276] Chr14:62980995 [GRCh38]
Chr14:63447713 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1302A>C (p.Gly434=) single nucleotide variant not provided [RCV000466070] Chr14:62950200 [GRCh38]
Chr14:63416918 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2088G>A (p.Val696=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000469983] Chr14:62708387 [GRCh38]
Chr14:63175105 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000477550] Chr14:62708160 [GRCh38]
Chr14:63174878 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2309C>A (p.Thr770Asn) single nucleotide variant not specified [RCV000504152] Chr14:62708166 [GRCh38]
Chr14:63174884 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.351A>G (p.Glu117=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636494]|not specified [RCV000502691] Chr14:63001413 [GRCh38]
Chr14:63468131 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636352]|Seizures [RCV001255056] Chr14:62981027 [GRCh38]
Chr14:63447745 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636372] Chr14:62981225 [GRCh38]
Chr14:63447943 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636375] Chr14:62802493 [GRCh38]
Chr14:63269211 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636406] Chr14:62708037 [GRCh38]
Chr14:63174755 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2706C>T (p.Pro902=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636457] Chr14:62707769 [GRCh38]
Chr14:63174487 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1557T>C (p.Ile519=) single nucleotide variant not provided [RCV000636472] Chr14:62849665 [GRCh38]
Chr14:63316383 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.264C>T (p.Tyr88=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636495] Chr14:63006406 [GRCh38]
Chr14:63473124 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2577= (p.Arg859=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000533147] Chr14:62707898 [GRCh38]
Chr14:63174616 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2706C>G (p.Pro902=) single nucleotide variant not provided [RCV000636537] Chr14:62707769 [GRCh38]
Chr14:63174487 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636539] Chr14:62707823 [GRCh38]
Chr14:63174541 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636550] Chr14:62708110 [GRCh38]
Chr14:63174828 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1887C>T (p.Asn629=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636591] Chr14:62779860 [GRCh38]
Chr14:63246578 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-17dup duplication Infantile epileptic dyskinetic encephalopathy [RCV000558069] Chr14:63006481..63006482 [GRCh38]
Chr14:63473199..63473200 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1137C>T (p.Val379=) single nucleotide variant not provided [RCV000558303] Chr14:62950365 [GRCh38]
Chr14:63417083 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636313] Chr14:62707663 [GRCh38]
Chr14:63174381 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636314] Chr14:62981203 [GRCh38]
Chr14:63447921 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2236T>C (p.Ser746Pro) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636322] Chr14:62708239 [GRCh38]
Chr14:63174957 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.305-6T>C single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000541501] Chr14:63001465 [GRCh38]
Chr14:63468183 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000537445] Chr14:62950163 [GRCh38]
Chr14:63416881 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2628T>C (p.Asp876=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000535047] Chr14:62707847 [GRCh38]
Chr14:63174565 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636271] Chr14:62707647 [GRCh38]
Chr14:63174365 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636426] Chr14:62987161 [GRCh38]
Chr14:63453879 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1239C>G (p.Pro413=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636453] Chr14:62950263 [GRCh38]
Chr14:63416981 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636469] Chr14:62707649 [GRCh38]
Chr14:63174367 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2103C>T (p.Pro701=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636600] Chr14:62708372 [GRCh38]
Chr14:63175090 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2532C>T (p.Pro844=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636612] Chr14:62707943 [GRCh38]
Chr14:63174661 [GRCh37]
Chr14:14q23.2		 likely benign
NC_000014.8:g.(?_63511812)_(63511924_?)dup duplication Infantile epileptic dyskinetic encephalopathy [RCV000636627] Chr14:63045094..63045206 [GRCh38]
Chr14:63511812..63511924 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636606] Chr14:62707522 [GRCh38]
Chr14:63174240 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000698312] Chr14:62707524 [GRCh38]
Chr14:63174242 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000701566] Chr14:62708103 [GRCh38]
Chr14:63174821 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000690325] Chr14:62708380 [GRCh38]
Chr14:63175098 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000690387] Chr14:62987121 [GRCh38]
Chr14:63453839 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000689279] Chr14:62707585 [GRCh38]
Chr14:63174303 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000697261] Chr14:62707642 [GRCh38]
Chr14:63174360 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.932dup (p.Asn311fs) duplication Infantile epileptic dyskinetic encephalopathy [RCV000697275] Chr14:62980881..62980882 [GRCh38]
Chr14:63447599..63447600 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000706580] Chr14:63006405 [GRCh38]
Chr14:63473123 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000705633] Chr14:62779900 [GRCh38]
Chr14:63246618 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000705748] Chr14:62707693 [GRCh38]
Chr14:63174411 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000694323] Chr14:62950156 [GRCh38]
Chr14:63416874 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000697032] Chr14:62981078 [GRCh38]
Chr14:63447796 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2(chr14:63188086-63198572)x1 copy number loss not provided [RCV000751031] Chr14:63188086..63198572 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.606G>A (p.Thr202=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000866782] Chr14:62981208 [GRCh38]
Chr14:63447926 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.213A>G (p.Glu71=) single nucleotide variant not provided [RCV000928127] Chr14:63006457 [GRCh38]
Chr14:63473175 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.244A>C (p.Arg82=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000926874] Chr14:63006426 [GRCh38]
Chr14:63473144 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.174C>T (p.Val58=) single nucleotide variant not provided [RCV000904613] Chr14:63016854 [GRCh38]
Chr14:63483572 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1884G>A (p.Ala628=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000868002] Chr14:62779863 [GRCh38]
Chr14:63246581 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1272C>T (p.Tyr424=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000946368] Chr14:62950230 [GRCh38]
Chr14:63416948 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-10T>C single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000868398] Chr14:63006482 [GRCh38]
Chr14:63473200 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001049123] Chr14:62708403 [GRCh38]
Chr14:63175121 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001056803] Chr14:62707831 [GRCh38]
Chr14:63174549 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001039764] Chr14:62779882 [GRCh38]
Chr14:63246600 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000807829] Chr14:62707884 [GRCh38]
Chr14:63174602 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.501G>A (p.Thr167=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000866062] Chr14:62987120 [GRCh38]
Chr14:63453838 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1110C>T (p.Ile370=) single nucleotide variant not provided [RCV000867606] Chr14:62950392 [GRCh38]
Chr14:63417110 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1257C>T (p.Tyr419=) single nucleotide variant not provided [RCV000862998] Chr14:62950245 [GRCh38]
Chr14:63416963 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2841A>C (p.Val947=) single nucleotide variant not provided [RCV000943364] Chr14:62707634 [GRCh38]
Chr14:63174352 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2364C>T (p.Gly788=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000869308] Chr14:62708111 [GRCh38]
Chr14:63174829 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000865513] Chr14:62987106 [GRCh38]
Chr14:63453824 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.195C>T (p.Cys65=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000862626] Chr14:63016833 [GRCh38]
Chr14:63483551 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1395A>C (p.Gly465=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000861128] Chr14:62849827 [GRCh38]
Chr14:63316545 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1902G>A (p.Thr634=) single nucleotide variant not provided [RCV000868414] Chr14:62779845 [GRCh38]
Chr14:63246563 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3 copy number gain not provided [RCV000845699] Chr14:61126208..63517651 [GRCh37]
Chr14:14q23.1-23.2		 uncertain significance
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000802693] Chr14:62707941 [GRCh38]
Chr14:63174659 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000801147] Chr14:62980994 [GRCh38]
Chr14:63447712 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000815311] Chr14:62802572 [GRCh38]
Chr14:63269290 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000822398] Chr14:62707890 [GRCh38]
Chr14:63174608 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000809735] Chr14:62981248 [GRCh38]
Chr14:63447966 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.2(chr14:63408187-63435283)x1 copy number loss not provided [RCV000849465] Chr14:63408187..63435283 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2890dup (p.Gln964fs) duplication Infantile epileptic dyskinetic encephalopathy [RCV000818922] Chr14:62707584..62707585 [GRCh38]
Chr14:63174302..63174303 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3 copy number gain not provided [RCV000847842] Chr14:63500586..63796306 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000804107] Chr14:62708110 [GRCh38]
Chr14:63174828 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000795301] Chr14:62708134 [GRCh38]
Chr14:63174852 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001066718] Chr14:62987181 [GRCh38]
Chr14:63453899 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000815453] Chr14:62708316 [GRCh38]
Chr14:63175034 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000823521] Chr14:62707918 [GRCh38]
Chr14:63174636 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3 copy number gain not provided [RCV000846702] Chr14:63500586..63796306 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2075A>G (p.Gln692Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001231102] Chr14:62708400 [GRCh38]
Chr14:63175118 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001203513] Chr14:62802359 [GRCh38]
Chr14:63269077 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001240033] Chr14:62779820 [GRCh38]
Chr14:63246538 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1120G>A (p.Glu374Lys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001209979] Chr14:62950382 [GRCh38]
Chr14:63417100 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001221666] Chr14:62708055 [GRCh38]
Chr14:63174773 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2382T>G (p.Cys794Trp) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001226073] Chr14:62708093 [GRCh38]
Chr14:63174811 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2667C>T (p.Pro889=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000895692] Chr14:62707808 [GRCh38]
Chr14:63174526 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1347G>A (p.Ser449=) single nucleotide variant not provided [RCV000869923] Chr14:62950155 [GRCh38]
Chr14:63416873 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2064G>A (p.Glu688=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000940951] Chr14:62708411 [GRCh38]
Chr14:63175129 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2244C>T (p.Thr748=) single nucleotide variant not provided [RCV000870063] Chr14:62708231 [GRCh38]
Chr14:63174949 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2730G>A (p.Leu910=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000927586] Chr14:62707745 [GRCh38]
Chr14:63174463 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1329T>C (p.Asp443=) single nucleotide variant not provided [RCV000888014] Chr14:62950173 [GRCh38]
Chr14:63416891 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.399G>A (p.Leu133=) single nucleotide variant not provided [RCV000871959] Chr14:63001365 [GRCh38]
Chr14:63468083 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.975G>T (p.Val325=) single nucleotide variant not provided [RCV000882169] Chr14:62950527 [GRCh38]
Chr14:63417245 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.753T>C (p.Asp251=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000909575] Chr14:62981061 [GRCh38]
Chr14:63447779 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.261C>T (p.Asn87=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000862049] Chr14:63006409 [GRCh38]
Chr14:63473127 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001222369] Chr14:62950282 [GRCh38]
Chr14:63417000 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001220552] Chr14:63045172 [GRCh38]
Chr14:63511890 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001220986] Chr14:62950300 [GRCh38]
Chr14:63417018 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.305-3C>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001229306] Chr14:63001462 [GRCh38]
Chr14:63468180 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001049704] Chr14:62950139 [GRCh38]
Chr14:63416857 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.197+3A>G single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001069324] Chr14:63016828 [GRCh38]
Chr14:63483546 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001220174] Chr14:62708323 [GRCh38]
Chr14:63175041 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001214978] Chr14:62802485 [GRCh38]
Chr14:63269203 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001235951] Chr14:62708019 [GRCh38]
Chr14:63174737 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001036616] Chr14:63001441 [GRCh38]
Chr14:63468159 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001051212] Chr14:62950514 [GRCh38]
Chr14:63417232 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001207812] Chr14:62950316 [GRCh38]
Chr14:63417034 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001234311] Chr14:62980997 [GRCh38]
Chr14:63447715 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001206916] Chr14:62950301 [GRCh38]
Chr14:63417019 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001236353] Chr14:62707527 [GRCh38]
Chr14:63174245 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001219637] Chr14:62849822 [GRCh38]
Chr14:63316540 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001064261] Chr14:62849709 [GRCh38]
Chr14:63316427 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001213380] Chr14:62708451 [GRCh38]
Chr14:63175169 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001232432] Chr14:62707986 [GRCh38]
Chr14:63174704 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001052389] Chr14:62987147 [GRCh38]
Chr14:63453865 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2360A>G (p.Asn787Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001053350] Chr14:62708115 [GRCh38]
Chr14:63174833 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3 copy number gain not provided [RCV001259780] Chr14:61409856..65742610 [GRCh37]
Chr14:14q23.1-23.3		 likely pathogenic
GRCh37/hg19 14q23.2(chr14:63503098-63796178)x3 copy number gain not provided [RCV001259781] Chr14:63503098..63796178 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val) single nucleotide variant not provided [RCV001255050] Chr14:62707686 [GRCh38]
Chr14:63174404 [GRCh37]
Chr14:14q23.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6254 AgrOrtholog
COSMIC KCNH5 COSMIC
Ensembl Genes ENSG00000140015 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000321427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378419 UniProtKB/Swiss-Prot
  ENSP00000395439 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322893 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394968 UniProtKB/Swiss-Prot
  ENST00000420622 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot
GTEx ENSG00000140015 GTEx
HGNC ID HGNC:6254 ENTREZGENE
Human Proteome Map KCNH5 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  EAG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-assoc_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27133 UniProtKB/Swiss-Prot
NCBI Gene 27133 ENTREZGENE
OMIM 605716 OMIM
PANTHER PTHR10217:SF533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30040 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EAGCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs sensory_box UniProtKB/Swiss-Prot
UniProt KCNH5_HUMAN UniProtKB/Swiss-Prot
  Q86XI1_HUMAN UniProtKB/TrEMBL
  Q8NCM2 ENTREZGENE
UniProt Secondary C9JI08 UniProtKB/TrEMBL
  C9JP98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH5  potassium voltage-gated channel subfamily H member 5  KCNH5  potassium channel, voltage gated eag related subfamily H, member 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH5  potassium channel, voltage gated eag related subfamily H, member 5  KCNH5  potassium voltage-gated channel, subfamily H (eag-related), member 5  Symbol and/or name change 5135510 APPROVED