HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) - Rat Genome Database

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Gene: HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) Homo sapiens
Analyze
Symbol: HCN1
Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
RGD ID: 733930
HGNC Page HGNC
Description: Enables cAMP binding activity; voltage-gated potassium channel activity; and voltage-gated sodium channel activity. Involved in several processes, including cellular response to cAMP; inorganic cation transmembrane transport; and protein homotetramerization. Located in plasma membrane. Is integral component of plasma membrane. Part of HCN channel complex. Implicated in developmental and epileptic encephalopathy 24 and generalized epilepsy with febrile seizures plus 10. Biomarker of temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCNG-1; BCNG1; brain cyclic nucleotide gated channel 1; brain cyclic nucleotide-gated channel 1; DEE24; EIEE24; GEFSP10; HAC-2; hyperpolarization activated cyclic nucleotide-gated potassium channel 1; hyperpolarization-activated, cyclic nucleotide-gated potassium channel 1 (hcn1); potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
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 Ensembl545,254,948 - 45,696,498 (-)EnsemblGRCh38hg38GRCh38
GRCh38545,254,948 - 45,696,380 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37545,255,050 - 45,696,482 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36545,295,109 - 45,731,977 (-)NCBINCBI36hg18NCBI36
Build 34545,297,729 - 45,731,977NCBI
Celera545,153,108 - 45,590,074 (-)NCBI
Cytogenetic Map5p12NCBI
HuRef545,207,222 - 45,649,517 (-)NCBIHuRef
CHM1_1545,254,898 - 45,696,071 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of vision  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence status epilepticus  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Cerebral atrophy  (IAGP)
Cognitive impairment  (IAGP)
Cortical dysplasia  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
EEG with spike-wave complexes  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized cerebral atrophy/hypoplasia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Incomplete penetrance  (IAGP)
Incoordination  (IAGP)
Intellectual disability  (IAGP)
Limb hypertonia  (IAGP)
Limited knee extension  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive trait  (IAGP)
Optic atrophy  (IAGP)
Pes planus  (IAGP)
Poor fine motor coordination  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Talipes valgus  (IAGP)
Tibial torsion  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
1. Bender RA, etal., J Neurosci. 2003 Jul 30;23(17):6826-36.
2. Brauer AU, etal., FASEB J. 2001 Dec;15(14):2689-701.
3. Brewster AL, etal., Neurobiol Dis. 2005 Jun-Jul;19(1-2):200-7.
4. Cho HJ, etal., Neuroscience. 2009 Aug 18;162(2):453-61. Epub 2009 May 3.
5. GOA_HUMAN data from the GO Consortium
6. Hablitz JJ and Yang J, Epilepsia. 2010 Jul;51 Suppl 3:52-5. doi: 10.1111/j.1528-1167.2010.02610.x.
7. Jung S, etal., J Neurosci. 2011 Oct 5;31(40):14291-5. doi: 10.1523/JNEUROSCI.1148-11.2011.
8. Kim CS, etal., Neuron. 2012 Aug 9;75(3):503-16. doi: 10.1016/j.neuron.2012.05.027.
9. Li B, etal., J Neurosci. 2012 Feb 29;32(9):3164-75. doi: 10.1523/JNEUROSCI.5143-11.2012.
10. Li CJ, etal., Mol Neurobiol. 2014 Oct;50(2):704-20. doi: 10.1007/s12035-014-8736-3. Epub 2014 May 18.
11. Li S, etal., Neuroscience. 2010 Feb 3;165(3):654-61. doi: 10.1016/j.neuroscience.2009.10.053. Epub 2009 Nov 3.
12. McClelland S, etal., Ann Neurol. 2011 Sep;70(3):454-64. doi: 10.1002/ana.22479.
13. Ohno Y, etal., PLoS One. 2015 May 13;10(5):e0123529. doi: 10.1371/journal.pone.0123529. eCollection 2015.
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Strauss U, etal., Eur J Neurosci. 2004 Jun;19(11):3048-58.
18. Tu H, etal., Neuroscience. 2010 Jan 13;165(1):39-52. doi: 10.1016/j.neuroscience.2009.10.002. Epub 2009 Oct 6.
19. Wells JE, etal., Int Endod J. 2007 Sep;40(9):715-21. Epub 2007 Jul 23.
20. Zha Q, etal., J Neurochem. 2008 Apr;105(1):68-77. Epub 2007 Nov 5.
Additional References at PubMed
PMID:8889548   PMID:9405696   PMID:9630217   PMID:9634236   PMID:9921901   PMID:11133998   PMID:12034718   PMID:12598605   PMID:12668666   PMID:12928435   PMID:14702039   PMID:16382102  
PMID:17529967   PMID:17931874   PMID:18081024   PMID:18454440   PMID:19232126   PMID:20145138   PMID:20806410   PMID:21456027   PMID:21504900   PMID:21562186   PMID:21615589   PMID:22094222  
PMID:22748890   PMID:23033536   PMID:23077068   PMID:24403084   PMID:24451387   PMID:24747641   PMID:25056061   PMID:25142030   PMID:26966193   PMID:27911380   PMID:28086084   PMID:28178648  
PMID:29047147   PMID:29676528   PMID:29936413   PMID:29987050   PMID:30351409   PMID:30392798   PMID:30776697   PMID:31774399   PMID:32184399  


Genomics

Comparative Map Data
HCN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl545,254,948 - 45,696,498 (-)EnsemblGRCh38hg38GRCh38
GRCh38545,254,948 - 45,696,380 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37545,255,050 - 45,696,482 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36545,295,109 - 45,731,977 (-)NCBINCBI36hg18NCBI36
Build 34545,297,729 - 45,731,977NCBI
Celera545,153,108 - 45,590,074 (-)NCBI
Cytogenetic Map5p12NCBI
HuRef545,207,222 - 45,649,517 (-)NCBIHuRef
CHM1_1545,254,898 - 45,696,071 (-)NCBICHM1_1
Hcn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913117,738,856 - 118,117,564 (+)NCBIGRCm39mm39
GRCm39 Ensembl13117,738,856 - 118,123,954 (+)Ensembl
GRCm3813117,602,320 - 117,981,028 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13117,602,320 - 117,987,418 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713118,391,127 - 118,769,835 (+)NCBIGRCm37mm9NCBIm37
MGSCv3613118,721,981 - 119,096,083 (+)NCBImm8
Celera13122,021,998 - 122,417,756 (+)NCBICelera
Cytogenetic Map13D2.3NCBI
cM Map1366.34NCBI
Hcn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2249,495,771 - 49,899,702 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl249,495,771 - 49,899,774 (+)Ensembl
Rnor_6.0250,099,576 - 50,499,799 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl250,099,576 - 50,499,799 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0268,473,431 - 68,874,494 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4249,525,949 - 49,939,066 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1249,454,181 - 49,867,299 (+)NCBI
Celera245,196,523 - 45,593,603 (+)NCBICelera
Cytogenetic Map2q15NCBI
Hcn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544617,151,311 - 17,457,888 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544617,146,915 - 17,457,843 (+)NCBIChiLan1.0ChiLan1.0
HCN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1569,724,749 - 70,161,427 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl569,724,767 - 70,158,761 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0564,673,392 - 65,116,259 (+)NCBIMhudiblu_PPA_v0panPan3
HCN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1464,777,069 - 65,162,603 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl464,775,577 - 65,160,444 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha464,536,272 - 64,921,927 (+)NCBI
ROS_Cfam_1.0465,274,982 - 65,661,386 (+)NCBI
UMICH_Zoey_3.1465,037,683 - 65,423,922 (+)NCBI
UNSW_CanFamBas_1.0465,160,205 - 65,546,474 (+)NCBI
UU_Cfam_GSD_1.0465,696,155 - 66,082,848 (+)NCBI
Hcn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213208,115,409 - 208,479,849 (+)NCBI
SpeTri2.0NW_00493648017,051,902 - 17,416,335 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HCN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1629,439,263 - 29,809,748 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11629,439,294 - 29,808,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21630,946,691 - 31,323,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HCN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1444,029,173 - 44,443,669 (-)NCBI
Vero_WHO_p1.0NW_02366607134,696,131 - 35,142,081 (-)NCBI
Hcn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247599,636,380 - 10,044,832 (+)NCBI

Position Markers
D5S2086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,567,923 - 45,568,072UniSTSGRCh37
Build 36545,603,680 - 45,603,829RGDNCBI36
Celera545,461,469 - 45,461,614RGD
Cytogenetic Map5p12UniSTS
HuRef545,521,033 - 45,521,180UniSTS
Marshfield Genetic Map559.85RGD
Marshfield Genetic Map559.85UniSTS
Genethon Genetic Map560.0UniSTS
deCODE Assembly Map567.27UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S1753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,670,861 - 45,671,010UniSTSGRCh37
Build 36545,706,618 - 45,706,767RGDNCBI36
Celera545,564,717 - 45,564,866RGD
Cytogenetic Map5p12UniSTS
HuRef545,624,277 - 45,624,426UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH46224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,255,154 - 45,255,279UniSTSGRCh37
Build 36545,290,911 - 45,291,036RGDNCBI36
Celera545,148,910 - 45,149,035RGD
Cytogenetic Map5p12UniSTS
HuRef545,207,324 - 45,207,449UniSTS
RH74834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,576,386 - 45,576,628UniSTSGRCh37
Build 36545,612,143 - 45,612,385RGDNCBI36
Celera545,469,928 - 45,470,170RGD
Cytogenetic Map5p12UniSTS
HuRef545,529,493 - 45,529,735UniSTS
SHGC-78170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,535,041 - 45,535,238UniSTSGRCh37
Build 36545,570,798 - 45,570,995RGDNCBI36
Celera545,428,596 - 45,428,793RGD
Cytogenetic Map5p12UniSTS
HuRef545,488,161 - 45,488,358UniSTS
RH120500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,488,879 - 45,489,170UniSTSGRCh37
Build 36545,524,636 - 45,524,927RGDNCBI36
Celera545,382,500 - 45,382,791RGD
Cytogenetic Map5p12UniSTS
HuRef545,442,002 - 45,442,293UniSTS
TNG Radiation Hybrid Map522865.0UniSTS
G65478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,687,839 - 45,688,109UniSTSGRCh37
Build 36545,723,596 - 45,723,866RGDNCBI36
Celera545,581,693 - 45,581,963RGD
Cytogenetic Map5p12UniSTS
HuRef545,641,247 - 45,641,517UniSTS
G66855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,672,157 - 45,672,495UniSTSGRCh37
Build 36545,707,914 - 45,708,252RGDNCBI36
Celera545,566,013 - 45,566,351RGD
Cytogenetic Map5p12UniSTS
HuRef545,625,573 - 45,625,911UniSTS
SHGC-53846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,255,318 - 45,255,449UniSTSGRCh37
Build 36545,291,075 - 45,291,206RGDNCBI36
Celera545,149,074 - 45,149,205RGD
Cytogenetic Map5p12UniSTS
HuRef545,207,488 - 45,207,619UniSTS
TNG Radiation Hybrid Map522416.0UniSTS
SHGC-14547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,435,959 - 45,436,062UniSTSGRCh37
Build 36545,471,716 - 45,471,819RGDNCBI36
Celera545,329,847 - 45,329,950RGD
Cytogenetic Map5p12UniSTS
HuRef545,389,051 - 45,389,154UniSTS
TNG Radiation Hybrid Map522885.0UniSTS
D5S2024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,492,341 - 45,492,464UniSTSGRCh37
Build 36545,528,098 - 45,528,221RGDNCBI36
Celera545,385,962 - 45,386,085RGD
Cytogenetic Map5p12UniSTS
HuRef545,445,464 - 45,445,587UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S1728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,466,562 - 45,466,739UniSTSGRCh37
Build 36545,502,319 - 45,502,496RGDNCBI36
Celera545,360,138 - 45,360,315RGD
Cytogenetic Map5p12UniSTS
HuRef545,419,695 - 45,419,872UniSTS
Whitehead-YAC Contig Map5 UniSTS
HCN1__6701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,261,990 - 45,262,781UniSTSGRCh37
Build 36545,297,747 - 45,298,538RGDNCBI36
Celera545,155,746 - 45,156,537RGD
HuRef545,214,159 - 45,214,950UniSTS
HCN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37545,645,444 - 45,645,589UniSTSGRCh37
Celera545,539,302 - 45,539,447UniSTS
HuRef545,598,867 - 45,599,012UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:751
Count of miRNA genes:517
Interacting mature miRNAs:567
Transcripts:ENST00000303230
Prediction methods:Miranda
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
High
Medium 6 2 1 27 1 155 17 1 1 26
Low 114 354 254 11 9 11 1036 266 2810 4 28 32 1 32 783
Below cutoff 2082 1638 1037 372 536 241 2921 1809 708 109 1003 991 134 1069 1723

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM931647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK299850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA696656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303230   ⟹   ENSP00000307342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,254,948 - 45,696,380 (-)Ensembl
RefSeq Acc Id: ENST00000634658   ⟹   ENSP00000489134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,641,701 - 45,696,498 (-)Ensembl
RefSeq Acc Id: ENST00000637256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,617,328 - 45,645,261 (-)Ensembl
RefSeq Acc Id: ENST00000637305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,259,457 - 45,480,136 (-)Ensembl
RefSeq Acc Id: ENST00000638054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,695,075 - 45,695,725 (-)Ensembl
RefSeq Acc Id: ENST00000673735   ⟹   ENSP00000501107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl545,254,948 - 45,696,380 (-)Ensembl
RefSeq Acc Id: NM_021072   ⟹   NP_066550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38545,254,948 - 45,696,380 (-)NCBI
GRCh37545,255,052 - 45,696,220 (-)NCBI
Build 36545,295,109 - 45,731,977 (-)NCBI Archive
HuRef545,207,222 - 45,649,517 (-)NCBI
CHM1_1545,254,898 - 45,696,071 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066550   ⟸   NM_021072
- UniProtKB: O60741 (UniProtKB/Swiss-Prot),   Q86WJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501107   ⟸   ENST00000673735
RefSeq Acc Id: ENSP00000489134   ⟸   ENST00000634658
RefSeq Acc Id: ENSP00000307342   ⟸   ENST00000303230
Promoters
RGD ID:6869554
Promoter ID:EPDNEW_H7942
Type:initiation region
Name:HCN1_1
Description:hyperpolarization activated cyclic nucleotide gated potassiumchannel 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38545,696,281 - 45,696,341EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021072.4(HCN1):c.1521C>T (p.Ala507=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000526363] Chr5:45303696 [GRCh38]
Chr5:45303798 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000545196]|History of neurodevelopmental disorder [RCV000720194]|not specified [RCV000173513] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000547258]|History of neurodevelopmental disorder [RCV000719270] Chr5:45695835 [GRCh38]
Chr5:45695937 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1662A>T (p.Arg554=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001450201]|not provided [RCV000551551] Chr5:45267210 [GRCh38]
Chr5:45267312 [GRCh37]
Chr5:5p12
likely benign
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p12-11(chr5:45506234-46114984)x3 copy number gain See cases [RCV000051708] Chr5:45506234..46114984 [GRCh38]
Chr5:45506336..46115086 [GRCh37]
Chr5:45542093..46150843 [NCBI36]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001080821]|Epileptic encephalopathy, early infantile, 24 [RCV000987523]|History of neurodevelopmental disorder [RCV000716399]|not provided [RCV000513768]|not specified [RCV000173510] Chr5:45695871..45695879 [GRCh38]
Chr5:45695973..45695981 [GRCh37]
Chr5:5p12
benign|likely benign
GRCh38/hg38 5p12(chr5:45183939-45972894)x1 copy number loss See cases [RCV000054135] Chr5:45183939..45972894 [GRCh38]
Chr5:45184041..45972996 [GRCh37]
Chr5:45219798..46008753 [NCBI36]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.2496G>A (p.Arg832=) single nucleotide variant Malignant melanoma [RCV000066946] Chr5:45262098 [GRCh38]
Chr5:45262200 [GRCh37]
Chr5:45297957 [NCBI36]
Chr5:5p12
not provided
NM_021072.3(HCN1):c.1443T>G (p.Pro481=) single nucleotide variant Malignant melanoma [RCV000066947] Chr5:45303774 [GRCh38]
Chr5:45303876 [GRCh37]
Chr5:45339633 [NCBI36]
Chr5:5p12
not provided
NM_021072.3(HCN1):c.861G>A (p.Met287Ile) single nucleotide variant Malignant melanoma [RCV000066948] Chr5:45461996 [GRCh38]
Chr5:45462098 [GRCh37]
Chr5:45497855 [NCBI36]
Chr5:5p12
not provided
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001080810]|History of neurodevelopmental disorder [RCV000715409]|not provided [RCV000711880]|not specified [RCV000082059] Chr5:45695885..45695893 [GRCh38]
Chr5:45695987..45695995 [GRCh37]
Chr5:5p12
benign
NM_021072.3(HCN1):c.1618+12896C>A single nucleotide variant Lung cancer [RCV000096000] Chr5:45290703 [GRCh38]
Chr5:45290805 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.1378-18367G>C single nucleotide variant Lung cancer [RCV000096001] Chr5:45322206 [GRCh38]
Chr5:45322308 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.1012-26339A>C single nucleotide variant Lung cancer [RCV000096002] Chr5:45423049 [GRCh38]
Chr5:45423151 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.1011+19176C>A single nucleotide variant Lung cancer [RCV000096003] Chr5:45442670 [GRCh38]
Chr5:45442772 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.850-46968G>T single nucleotide variant Lung cancer [RCV000096005] Chr5:45508975 [GRCh38]
Chr5:45509077 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.850-47443G>T single nucleotide variant Lung cancer [RCV000096006] Chr5:45509450 [GRCh38]
Chr5:45509552 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.849+80119T>C single nucleotide variant Lung cancer [RCV000096007] Chr5:45565066 [GRCh38]
Chr5:45565168 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.849+25890G>T single nucleotide variant Lung cancer [RCV000096008] Chr5:45619295 [GRCh38]
Chr5:45619397 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.849+20082G>C single nucleotide variant Lung cancer [RCV000096009] Chr5:45625103 [GRCh38]
Chr5:45625205 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.849+944T>C single nucleotide variant Lung cancer [RCV000096010] Chr5:45644241 [GRCh38]
Chr5:45644343 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.426-3625A>G single nucleotide variant Lung cancer [RCV000096011] Chr5:45649233 [GRCh38]
Chr5:45649335 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.426-20250G>T single nucleotide variant Lung cancer [RCV000096012] Chr5:45665858 [GRCh38]
Chr5:45665960 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.528T>C (p.Ile176=) single nucleotide variant not provided [RCV000122567] Chr5:45645506 [GRCh38]
Chr5:45645608 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1216C>G (p.Gln406Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001367508] Chr5:45396506 [GRCh38]
Chr5:45396608 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1783+7dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000467601]|not provided [RCV001535160]|not specified [RCV000179968] Chr5:45267081..45267082 [GRCh38]
Chr5:45267183..45267184 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001082812]|History of neurodevelopmental disorder [RCV000719582]|not provided [RCV000457159]|not specified [RCV000180359] Chr5:45262422 [GRCh38]
Chr5:45262524 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000469190]|History of neurodevelopmental disorder [RCV000717553]|not specified [RCV000173511] Chr5:45695954 [GRCh38]
Chr5:45696056 [GRCh37]
Chr5:5p12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021072.4(HCN1):c.336C>A (p.Arg112=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636559]|History of neurodevelopmental disorder [RCV000715891]|not provided [RCV000173512] Chr5:45695758 [GRCh38]
Chr5:45695860 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.3(HCN1):c.223_224insGCGGCGGCG (p.Gly74_Glu75insGlyGlyGly) insertion not specified [RCV000173513] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.935A>T (p.Asp312Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001312737] Chr5:45461922 [GRCh38]
Chr5:45462024 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000128458]|not specified [RCV001169921] Chr5:45396521 [GRCh38]
Chr5:45396623 [GRCh37]
Chr5:5p12
pathogenic|uncertain significance
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001054783]|Epileptic encephalopathy, early infantile, 24 [RCV000128459] Chr5:45695795 [GRCh38]
Chr5:45695897 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000128460]|not provided [RCV000486307] Chr5:45645220 [GRCh38]
Chr5:45645322 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000128461] Chr5:45461967 [GRCh38]
Chr5:45462069 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000128462] Chr5:45645199 [GRCh38]
Chr5:45645301 [GRCh37]
Chr5:5p12
pathogenic
GRCh38/hg38 5p12-11(chr5:45414481-46114984)x3 copy number gain See cases [RCV000135799] Chr5:45414481..46114984 [GRCh38]
Chr5:45414583..46115086 [GRCh37]
Chr5:45450340..46150843 [NCBI36]
Chr5:5p12-11
uncertain significance
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p12(chr5:45566861-45872726)x3 copy number gain See cases [RCV000135970] Chr5:45566861..45872726 [GRCh38]
Chr5:45566963..45872828 [GRCh37]
Chr5:45602720..45908585 [NCBI36]
Chr5:5p12
uncertain significance
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2
uncertain significance
GRCh38/hg38 5p12(chr5:45003649-45362262)x1 copy number loss See cases [RCV000137964] Chr5:45003649..45362262 [GRCh38]
Chr5:45003751..45362364 [GRCh37]
Chr5:45039508..45398121 [NCBI36]
Chr5:5p12
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p12-11(chr5:45273484-46114984)x3 copy number gain See cases [RCV000138855] Chr5:45273484..46114984 [GRCh38]
Chr5:45273586..46115086 [GRCh37]
Chr5:45309343..46150843 [NCBI36]
Chr5:5p12-11
uncertain significance|conflicting data from submitters
GRCh38/hg38 5p12(chr5:45678461-46086772)x3 copy number gain See cases [RCV000140374] Chr5:45678461..46086772 [GRCh38]
Chr5:45678563..46086874 [GRCh37]
Chr5:45714320..46122631 [NCBI36]
Chr5:5p12
likely benign
GRCh38/hg38 5p12-11(chr5:45647519-46389237)x3 copy number gain See cases [RCV000142252] Chr5:45647519..46389237 [GRCh38]
Chr5:45647621..46389339 [GRCh37]
Chr5:45683378..46425096 [NCBI36]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001085415]|History of neurodevelopmental disorder [RCV000716540]|not provided [RCV000711879]|not specified [RCV000153349] Chr5:45262797 [GRCh38]
Chr5:45262899 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.2428G>C (p.Glu810Gln) single nucleotide variant not provided [RCV000153348] Chr5:45262166 [GRCh38]
Chr5:45262268 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.990G>C (p.Trp330Cys) single nucleotide variant not provided [RCV000177323] Chr5:45461867 [GRCh38]
Chr5:45461969 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
NC_000005.9:g.(?_45396574)_(45696215_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000546295] Chr5:45396472..45696113 [GRCh38]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1936A>T (p.Thr646Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716710] Chr5:45262658 [GRCh38]
Chr5:45262760 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2303A>C (p.His768Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000716718] Chr5:45262291 [GRCh38]
Chr5:45262393 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12(chr5:45519525-45693058)x1 copy number loss not provided [RCV000762749] Chr5:45519525..45693058 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001079666]|History of neurodevelopmental disorder [RCV000716318]|not provided [RCV000440326]|not specified [RCV000592162] Chr5:45695871..45695876 [GRCh38]
Chr5:45695973..45695978 [GRCh37]
Chr5:5p12
benign|likely benign|uncertain significance
NM_021072.4(HCN1):c.1338G>A (p.Glu446=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000226505] Chr5:45353139 [GRCh38]
Chr5:45353241 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000808238]|not provided [RCV000519557] Chr5:45262099 [GRCh38]
Chr5:45262201 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1377+1G>A single nucleotide variant Inborn genetic diseases [RCV000622657] Chr5:45353099 [GRCh38]
Chr5:45353201 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000551860]|History of neurodevelopmental disorder [RCV000719405] Chr5:45695871..45695894 [GRCh38]
Chr5:45695973..45695996 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.3(HCN1):c.-25_1230+?dup1255 duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000240054] Chr5:45396492..45696118 [GRCh38]
Chr5:45396594..45696220 [GRCh37]
Chr5:5p12
uncertain significance
Single allele duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000529270] Chr5:45261901..45262830 [GRCh38]
Chr5:5p12
uncertain significance
NM_021072.3(HCN1):c.223_224insGCG (p.Gly74_Glu75insGly) insertion not specified [RCV000380928] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.305T>A (p.Leu102Gln) single nucleotide variant not provided [RCV000383662] Chr5:45695789 [GRCh38]
Chr5:45695891 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.270G>A (p.Gln90=) single nucleotide variant not provided [RCV000288446] Chr5:45695824 [GRCh38]
Chr5:45695926 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.255G>T (p.Glu85Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001294379]|not provided [RCV000288763] Chr5:45695839 [GRCh38]
Chr5:45695941 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.242T>A (p.Phe81Tyr) single nucleotide variant not provided [RCV000292789] Chr5:45695852 [GRCh38]
Chr5:45695954 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.135C>T (p.Gly45=) single nucleotide variant not provided [RCV000297880] Chr5:45695959 [GRCh38]
Chr5:45696061 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.185A>T (p.Asp62Val) single nucleotide variant not provided [RCV000585338] Chr5:45695909 [GRCh38]
Chr5:45696011 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1044A>C (p.Ala348=) single nucleotide variant not provided [RCV000592433] Chr5:45396678 [GRCh38]
Chr5:45396780 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1619-3T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001089088]|History of neurodevelopmental disorder [RCV000719629]|not provided [RCV000592953] Chr5:45267256 [GRCh38]
Chr5:45267358 [GRCh37]
Chr5:5p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021072.4(HCN1):c.1336G>A (p.Glu446Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000550634] Chr5:45353141 [GRCh38]
Chr5:45353243 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.210C>T (p.Gly70=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000532719] Chr5:45695884 [GRCh38]
Chr5:45695986 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.24C>T (p.Asn8=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000529962] Chr5:45696070 [GRCh38]
Chr5:45696172 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001089002]|not provided [RCV000591084] Chr5:45262586 [GRCh38]
Chr5:45262688 [GRCh37]
Chr5:5p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000767990] Chr5:45262575 [GRCh38]
Chr5:45262677 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.240C>A (p.Gly80=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001083080]|not provided [RCV000728680] Chr5:45695854 [GRCh38]
Chr5:45695956 [GRCh37]
Chr5:5p12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021072.4(HCN1):c.192_215dup (p.Gly67_Gly74dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000539382] Chr5:45695878..45695879 [GRCh38]
Chr5:45695980..45695981 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000558459]|History of neurodevelopmental disorder [RCV000720445] Chr5:45262367 [GRCh38]
Chr5:45262469 [GRCh37]
Chr5:5p12
benign|likely benign|uncertain significance
NM_021072.4(HCN1):c.1710C>T (p.Asn570=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000526041]|not specified [RCV000733908] Chr5:45267162 [GRCh38]
Chr5:45267264 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) single nucleotide variant not provided [RCV000444585] Chr5:45461944 [GRCh38]
Chr5:45462046 [GRCh37]
Chr5:5p12
likely pathogenic
GRCh37/hg19 5p12-11(chr5:45383389-46246647)x3 copy number gain See cases [RCV000445991] Chr5:45383389..46246647 [GRCh37]
Chr5:5p12-11
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p12(chr5:45273586-46098868)x3 copy number gain See cases [RCV000448708] Chr5:45273586..46098868 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) single nucleotide variant Epileptic encephalopathy [RCV000416966]|Epileptic encephalopathy, early infantile, 24 [RCV000585842] Chr5:45396550 [GRCh38]
Chr5:45396652 [GRCh37]
Chr5:5p12
likely pathogenic
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) single nucleotide variant Epileptic encephalopathy [RCV000417011]|Epileptic encephalopathy, early infantile, 24 [RCV000786046] Chr5:45645575 [GRCh38]
Chr5:45645677 [GRCh37]
Chr5:5p12
pathogenic|likely pathogenic
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462927]|History of neurodevelopmental disorder [RCV000720793]|not provided [RCV000513246] Chr5:45695970 [GRCh38]
Chr5:45696072 [GRCh37]
Chr5:5p12
benign|likely benign|uncertain significance
NM_021072.4(HCN1):c.1783+10T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001454592]|not provided [RCV000463121] Chr5:45267079 [GRCh38]
Chr5:45267181 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1952C>G (p.Ser651Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000463713] Chr5:45262642 [GRCh38]
Chr5:45262744 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.2561G>C (p.Arg854Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467838] Chr5:45262033 [GRCh38]
Chr5:45262135 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.726A>C (p.Gly242=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000456707] Chr5:45645308 [GRCh38]
Chr5:45645410 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1170C>T (p.Val390=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000464225] Chr5:45396552 [GRCh38]
Chr5:45396654 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2382C>T (p.Pro794=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001444352]|not provided [RCV000472020] Chr5:45262212 [GRCh38]
Chr5:45262314 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000475843]|not specified [RCV000380928] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2009C>A (p.Ala670Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000472092] Chr5:45262585 [GRCh38]
Chr5:45262687 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.159C>G (p.His53Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000457427]|History of neurodevelopmental disorder [RCV000716818]|not specified [RCV000734431] Chr5:45695935 [GRCh38]
Chr5:45696037 [GRCh37]
Chr5:5p12
benign|likely benign|uncertain significance
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
NM_021072.4(HCN1):c.1041C>T (p.Tyr347=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000472693]|History of neurodevelopmental disorder [RCV000717960] Chr5:45396681 [GRCh38]
Chr5:45396783 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000476818]|Intellectual disability [RCV001252506] Chr5:45695884..45695885 [GRCh38]
Chr5:45695986..45695987 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.128C>T (p.Pro43Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000477132] Chr5:45695966 [GRCh38]
Chr5:45696068 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12-11(chr5:45593654-46389339)x3 copy number gain See cases [RCV000512132] Chr5:45593654..46389339 [GRCh37]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.558C>G (p.Phe186Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000469716] Chr5:45645476 [GRCh38]
Chr5:45645578 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.69C>T (p.Ala23=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000469745] Chr5:45696025 [GRCh38]
Chr5:45696127 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.68C>T (p.Ala23Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462613] Chr5:45696026 [GRCh38]
Chr5:45696128 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_021072.4(HCN1):c.201T>C (p.Gly67=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462702] Chr5:45695893 [GRCh38]
Chr5:45695995 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1896G>T (p.Met632Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000531814] Chr5:45262698 [GRCh38]
Chr5:45262800 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p12-11(chr5:45362150-46389339)x3 copy number gain See cases [RCV000510845] Chr5:45362150..46389339 [GRCh37]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.158A>C (p.His53Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636366] Chr5:45695936 [GRCh38]
Chr5:45696038 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636396]|not provided [RCV001547515] Chr5:45262614 [GRCh38]
Chr5:45262716 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.25T>C (p.Ser9Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636488] Chr5:45696069 [GRCh38]
Chr5:45696171 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2445C>A (p.Ile815=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636496] Chr5:45262149 [GRCh38]
Chr5:45262251 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1152C>A (p.Thr384=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636506] Chr5:45396570 [GRCh38]
Chr5:45396672 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1353T>C (p.Asn451=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636519] Chr5:45353124 [GRCh38]
Chr5:45353226 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.261C>G (p.Pro87=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636522] Chr5:45695833 [GRCh38]
Chr5:45695935 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.30G>T (p.Ser10=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636530] Chr5:45696064 [GRCh38]
Chr5:45696166 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1971C>T (p.Thr657=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636585] Chr5:45262623 [GRCh38]
Chr5:45262725 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1643G>A (p.Arg548His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000538794] Chr5:45267229 [GRCh38]
Chr5:45267331 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000535446] Chr5:45645333 [GRCh38]
Chr5:45645435 [GRCh37]
Chr5:5p12
likely pathogenic|uncertain significance
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) deletion Epileptic encephalopathy, early infantile, 24 [RCV000590947] Chr5:45695680 [GRCh38]
Chr5:45695782 [GRCh37]
Chr5:5p12
likely pathogenic
NM_021072.4(HCN1):c.256G>A (p.Gly86Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001484249]|not provided [RCV000636303] Chr5:45695838 [GRCh38]
Chr5:45695940 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.2060C>A (p.Thr687Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636315] Chr5:45262534 [GRCh38]
Chr5:45262636 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.2047C>A (p.Pro683Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636334] Chr5:45262547 [GRCh38]
Chr5:45262649 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1783+4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001079684]|History of neurodevelopmental disorder [RCV000717093]|not provided [RCV000555759] Chr5:45267085 [GRCh38]
Chr5:45267187 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.616A>G (p.Ile206Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000559668] Chr5:45645418 [GRCh38]
Chr5:45645520 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1182C>T (p.Thr394=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000538160] Chr5:45396540 [GRCh38]
Chr5:45396642 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1783+4C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000538466] Chr5:45267085 [GRCh38]
Chr5:45267187 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12-11(chr5:45665996-46199398)x1 copy number loss See cases [RCV000512447] Chr5:45665996..46199398 [GRCh37]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.2427C>T (p.Gly809=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636280] Chr5:45262167 [GRCh38]
Chr5:45262269 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.720A>T (p.Glu240Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636300] Chr5:45645314 [GRCh38]
Chr5:45645416 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.239G>A (p.Gly80Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001203205]|not provided [RCV000594451] Chr5:45695855 [GRCh38]
Chr5:45695957 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1522G>A (p.Val508Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636328] Chr5:45303695 [GRCh38]
Chr5:45303797 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1551C>T (p.His517=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636466] Chr5:45303666 [GRCh38]
Chr5:45303768 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.921C>T (p.Leu307=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636481] Chr5:45461936 [GRCh38]
Chr5:45462038 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.426-7G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636489] Chr5:45645615 [GRCh38]
Chr5:45645717 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2346A>G (p.Glu782=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636490] Chr5:45262248 [GRCh38]
Chr5:45262350 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1212G>A (p.Arg404=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001409952]|not provided [RCV000636562] Chr5:45396510 [GRCh38]
Chr5:45396612 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2259G>A (p.Pro753=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636598] Chr5:45262335 [GRCh38]
Chr5:45262437 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.864A>G (p.Thr288=) single nucleotide variant not provided [RCV000513010] Chr5:45461993 [GRCh38]
Chr5:45462095 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.781A>G (p.Lys261Glu) single nucleotide variant Inborn genetic diseases [RCV000623856] Chr5:45645253 [GRCh38]
Chr5:45645355 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.488G>T (p.Gly163Val) single nucleotide variant not provided [RCV000659014] Chr5:45645546 [GRCh38]
Chr5:45645648 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001405500]|History of neurodevelopmental disorder [RCV000717264] Chr5:45262343 [GRCh38]
Chr5:45262445 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1378-4T>C single nucleotide variant History of neurodevelopmental disorder [RCV000716707] Chr5:45303843 [GRCh38]
Chr5:45303945 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2560C>A (p.Arg854=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001405887]|not provided [RCV000684844] Chr5:45262034 [GRCh38]
Chr5:45262136 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.2145A>G (p.Arg715=) single nucleotide variant History of neurodevelopmental disorder [RCV000719630] Chr5:45262449 [GRCh38]
Chr5:45262551 [GRCh37]
Chr5:5p12
likely benign
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000702803] Chr5:45262519 [GRCh38]
Chr5:45262621 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000699512]|Epileptic encephalopathy, early infantile, 24 [RCV000764610] Chr5:45262204 [GRCh38]
Chr5:45262306 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2041C>T (p.Pro681Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001471101]|not provided [RCV000701479] Chr5:45262553 [GRCh38]
Chr5:45262655 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1404A>G (p.Lys468=) single nucleotide variant History of neurodevelopmental disorder [RCV000717068] Chr5:45303813 [GRCh38]
Chr5:45303915 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1900C>A (p.Gln634Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000704607] Chr5:45262694 [GRCh38]
Chr5:45262796 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000695103]|History of neurodevelopmental disorder [RCV000719394] Chr5:45695887..45695888 [GRCh38]
Chr5:45695989..45695990 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV000714812] Chr5:45267119 [GRCh38]
Chr5:45267221 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1570A>G (p.Thr524Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000688463] Chr5:45303647 [GRCh38]
Chr5:45303749 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000705338]|Epileptic encephalopathy, early infantile, 24 [RCV000987522] Chr5:45695871..45695873 [GRCh38]
Chr5:45695973..45695975 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.828A>G (p.Arg276=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001515827]|not provided [RCV000688710] Chr5:45645206 [GRCh38]
Chr5:45645308 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_021072.4(HCN1):c.1343A>G (p.Asn448Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000706719] Chr5:45353134 [GRCh38]
Chr5:45353236 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.280A>G (p.Met94Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000702096] Chr5:45695814 [GRCh38]
Chr5:45695916 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2105C>T (p.Ala702Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000702758] Chr5:45262489 [GRCh38]
Chr5:45262591 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1139T>C (p.Ile380Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001465832]|not provided [RCV000703016] Chr5:45396583 [GRCh38]
Chr5:45396685 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1141G>A (p.Val381Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000696511] Chr5:45396581 [GRCh38]
Chr5:45396683 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034308]|History of neurodevelopmental disorder [RCV000715678] Chr5:45261959 [GRCh38]
Chr5:45262061 [GRCh37]
Chr5:5p12
benign|uncertain significance
NM_021072.4(HCN1):c.1626C>T (p.Cys542=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000861954]|History of neurodevelopmental disorder [RCV000717081] Chr5:45267246 [GRCh38]
Chr5:45267348 [GRCh37]
Chr5:5p12
benign|likely benign
NM_021072.4(HCN1):c.1143C>T (p.Val381=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000921764]|History of neurodevelopmental disorder [RCV000717783] Chr5:45396579 [GRCh38]
Chr5:45396681 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.199G>C (p.Gly67Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000717807] Chr5:45695895 [GRCh38]
Chr5:45695997 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.685T>A (p.Ser229Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719074] Chr5:45645349 [GRCh38]
Chr5:45645451 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1578C>A (p.Ser526=) single nucleotide variant History of neurodevelopmental disorder [RCV000719145] Chr5:45303639 [GRCh38]
Chr5:45303741 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1696G>A (p.Val566Met) single nucleotide variant History of neurodevelopmental disorder [RCV000720537] Chr5:45267176 [GRCh38]
Chr5:45267278 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.451A>G (p.Ile151Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720577] Chr5:45645583 [GRCh38]
Chr5:45645685 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.734C>T (p.Ser245Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001362313]|History of neurodevelopmental disorder [RCV000720895] Chr5:45645300 [GRCh38]
Chr5:45645402 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p12-11(chr5:45378207-46228333)x3 copy number gain not provided [RCV000744683] Chr5:45378207..46228333 [GRCh37]
Chr5:5p12-11
benign
GRCh37/hg19 5p12(chr5:45477535-45527688)x0 copy number loss not provided [RCV000744684] Chr5:45477535..45527688 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:45527038-45527579)x1 copy number loss not provided [RCV000744685] Chr5:45527038..45527579 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:45527038-45537620)x1 copy number loss not provided [RCV000744686] Chr5:45527038..45537620 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:45527094-45527688)x0 copy number loss not provided [RCV000744687] Chr5:45527094..45527688 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:45527094-45527826)x1 copy number loss not provided [RCV000744688] Chr5:45527094..45527826 [GRCh37]
Chr5:5p12
benign
GRCh37/hg19 5p12(chr5:45527160-45537620)x1 copy number loss not provided [RCV000744689] Chr5:45527160..45537620 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.1619-5T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001491944]|not provided [RCV000979873] Chr5:45267258 [GRCh38]
Chr5:45267360 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1542C>T (p.Phe514=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001483881]|not provided [RCV000980363] Chr5:45303675 [GRCh38]
Chr5:45303777 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2556G>T (p.Pro852=) single nucleotide variant not provided [RCV000998379] Chr5:45262038 [GRCh38]
Chr5:45262140 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.159C>T (p.His53=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000864979] Chr5:45695935 [GRCh38]
Chr5:45696037 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1378-5T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000982856] Chr5:45303844 [GRCh38]
Chr5:45303946 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1695C>T (p.Ser565=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000863311] Chr5:45267177 [GRCh38]
Chr5:45267279 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1716C>A (p.Val572=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000920583] Chr5:45267156 [GRCh38]
Chr5:45267258 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2295T>C (p.Asn765=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000867072] Chr5:45262299 [GRCh38]
Chr5:45262401 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001449135]|not provided [RCV000867104] Chr5:45262087 [GRCh38]
Chr5:45262189 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.252C>T (p.Ala84=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001518857]|not provided [RCV000867981] Chr5:45695842 [GRCh38]
Chr5:45695944 [GRCh37]
Chr5:5p12
benign
NM_021072.3:c.850-?_1377+?del deletion not provided [RCV000883543]   likely benign
NM_021072.4(HCN1):c.2231C>T (p.Pro744Leu) single nucleotide variant not provided [RCV000903240] Chr5:45262363 [GRCh38]
Chr5:45262465 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.1173_1174del (p.His392fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001058211] Chr5:45396548..45396549 [GRCh38]
Chr5:45396650..45396651 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.10:g.(?_45261901)_(45696113_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033131] Chr5:45262003..45696215 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1351A>G (p.Asn451Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001062285] Chr5:45353126 [GRCh38]
Chr5:45353228 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2564G>A (p.Gly855Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001041228] Chr5:45262030 [GRCh38]
Chr5:45262132 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.10:g.(?_45695649)_(45696113_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033513] Chr5:45695751..45696215 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1437G>A (p.Ala479=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034160] Chr5:45303780 [GRCh38]
Chr5:45303882 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.2555C>A (p.Pro852Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034266] Chr5:45262039 [GRCh38]
Chr5:45262141 [GRCh37]
Chr5:5p12
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_021072.4(HCN1):c.129G>A (p.Pro43=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000792077] Chr5:45695965 [GRCh38]
Chr5:45696067 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2270C>T (p.Thr757Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001492690]|not provided [RCV000941353] Chr5:45262324 [GRCh38]
Chr5:45262426 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.546A>G (p.Ser182=) single nucleotide variant not provided [RCV000867198] Chr5:45645488 [GRCh38]
Chr5:45645590 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1917C>A (p.Ile639=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001497165]|not provided [RCV000922741] Chr5:45262677 [GRCh38]
Chr5:45262779 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.369G>A (p.Glu123=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001500013]|not provided [RCV000867305] Chr5:45695725 [GRCh38]
Chr5:45695827 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2604A>G (p.Pro868=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000868970] Chr5:45261990 [GRCh38]
Chr5:45262092 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2170G>A (p.Ala724Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000867855] Chr5:45262424 [GRCh38]
Chr5:45262526 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.297C>G (p.Thr99=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001473371]|not provided [RCV000979791] Chr5:45695797 [GRCh38]
Chr5:45695899 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.425+7G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000865258] Chr5:45695662 [GRCh38]
Chr5:45695764 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.711T>C (p.Leu237=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000951723] Chr5:45645323 [GRCh38]
Chr5:45645425 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.597C>T (p.Val199=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001438526]|not provided [RCV000951836] Chr5:45645437 [GRCh38]
Chr5:45645539 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1161C>T (p.Ala387=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001402413]|not provided [RCV000936336] Chr5:45396561 [GRCh38]
Chr5:45396663 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.274_294dup (p.Gly92_Phe98dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000818909] Chr5:45695799..45695800 [GRCh38]
Chr5:45695901..45695902 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2353C>T (p.Pro785Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000799789] Chr5:45262241 [GRCh38]
Chr5:45262343 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NC_000005.9:g.(?_45267171)_(45696215_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000801354] Chr5:45267069..45696113 [GRCh38]
Chr5:45267171..45696215 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.278_298dup (p.Phe93_Thr99dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000800057] Chr5:45695795..45695796 [GRCh38]
Chr5:45695897..45695898 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.-189_221del (p.Met1fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000801317] Chr5:45695873..45696282 [GRCh38]
Chr5:45695975..45696384 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.203GCG[9] (p.Gly73_Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000802189] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1780A>G (p.Ile594Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000815432] Chr5:45267092 [GRCh38]
Chr5:45267194 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000815698] Chr5:45645244 [GRCh38]
Chr5:45645346 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1975C>T (p.Arg659Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000820149] Chr5:45262619 [GRCh38]
Chr5:45262721 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.46G>A (p.Asp16Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000813799] Chr5:45696048 [GRCh38]
Chr5:45696150 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001382081]|Generalized epilepsy with febrile seizures plus, type 10 [RCV000786049] Chr5:45396551 [GRCh38]
Chr5:45396653 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV000786050] Chr5:45267103 [GRCh38]
Chr5:45267205 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000817889] Chr5:45262103 [GRCh38]
Chr5:45262205 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2302C>G (p.His768Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000805676] Chr5:45262292 [GRCh38]
Chr5:45262394 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000807663] Chr5:45262378 [GRCh38]
Chr5:45262480 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.728T>G (p.Met243Arg) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV000786048] Chr5:45645306 [GRCh38]
Chr5:45645408 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV000786051] Chr5:45461871 [GRCh38]
Chr5:45461973 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.1240G>A (p.Val414Met) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV000786052] Chr5:45353237 [GRCh38]
Chr5:45353339 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.469C>G (p.Leu157Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV000786053] Chr5:45645565 [GRCh38]
Chr5:45645667 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.1056T>C (p.Ala352=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001505466]|not provided [RCV000978988] Chr5:45396666 [GRCh38]
Chr5:45396768 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2447C>G (p.Pro816Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000799798] Chr5:45262147 [GRCh38]
Chr5:45262249 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1857C>G (p.Asn619Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000820070] Chr5:45262737 [GRCh38]
Chr5:45262839 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1680T>C (p.Arg560=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001500910]|not provided [RCV000863836] Chr5:45267192 [GRCh38]
Chr5:45267294 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1375G>C (p.Glu459Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001067059] Chr5:45353102 [GRCh38]
Chr5:45353204 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1
pathogenic
NC_000005.10:g.(?_45261921)_(45303839_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001032553] Chr5:45262023..45303941 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.10:g.(?_45645165)_(45696113_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031741] Chr5:45645267..45696215 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12(chr5:44677459-45399633)x3 copy number gain not provided [RCV000846989] Chr5:44677459..45399633 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2310C>T (p.Ser770=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001208248] Chr5:45262284 [GRCh38]
Chr5:45262386 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.1657G>A (p.Val553Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001237739] Chr5:45267215 [GRCh38]
Chr5:45267317 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001209767] Chr5:45262174 [GRCh38]
Chr5:45262276 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1306G>A (p.Glu436Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001224484] Chr5:45353171 [GRCh38]
Chr5:45353273 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2080C>G (p.Leu694Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001221935] Chr5:45262514 [GRCh38]
Chr5:45262616 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.488G>A (p.Gly163Glu) single nucleotide variant not provided [RCV000998380] Chr5:45645546 [GRCh38]
Chr5:45645648 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
GRCh37/hg19 5p12(chr5:45407119-45521734)x1 copy number loss not provided [RCV000845767] Chr5:45407119..45521734 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.-25_425del (p.Met1_Arg142del) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001247201] Chr5:45695669..45696118 [GRCh38]
Chr5:45695771..45696220 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) single nucleotide variant not provided [RCV001577384] Chr5:45645226 [GRCh38]
Chr5:45645328 [GRCh37]
Chr5:5p12
uncertain significance
Single allele duplication Generalized epilepsy with febrile seizures plus, type 10 [RCV001542324] Chr5:45270314..46227325 [GRCh38]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.189C>T (p.Gly63=) single nucleotide variant not provided [RCV000895163] Chr5:45695905 [GRCh38]
Chr5:45696007 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter) single nucleotide variant not provided [RCV000931749] Chr5:45303707 [GRCh38]
Chr5:45303809 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2083T>G (p.Ser695Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000885324] Chr5:45262511 [GRCh38]
Chr5:45262613 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1065C>T (p.His355=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000863520] Chr5:45396657 [GRCh38]
Chr5:45396759 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1503T>C (p.Tyr501=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466726]|not provided [RCV000933321] Chr5:45303714 [GRCh38]
Chr5:45303816 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1329C>T (p.Ile443=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001421088]|not provided [RCV000872971] Chr5:45353148 [GRCh38]
Chr5:45353250 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2170G>T (p.Ala724Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001218961] Chr5:45262424 [GRCh38]
Chr5:45262526 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2462C>T (p.Ala821Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001219541] Chr5:45262132 [GRCh38]
Chr5:45262234 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2111G>A (p.Cys704Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001245012] Chr5:45262483 [GRCh38]
Chr5:45262585 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1857C>A (p.Asn619Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001234228] Chr5:45262737 [GRCh38]
Chr5:45262839 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1966C>A (p.Pro656Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001209038] Chr5:45262628 [GRCh38]
Chr5:45262730 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.130G>C (p.Gly44Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001066173] Chr5:45695964 [GRCh38]
Chr5:45696066 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.238G>T (p.Gly80Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001221517] Chr5:45695856 [GRCh38]
Chr5:45695958 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.290A>G (p.Gln97Arg) single nucleotide variant not provided [RCV000998381] Chr5:45695804 [GRCh38]
Chr5:45695906 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1012-14A>G single nucleotide variant not provided [RCV001557955] Chr5:45396724 [GRCh38]
Chr5:45396826 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.477C>G (p.Ile159Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001066815] Chr5:45645557 [GRCh38]
Chr5:45645659 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2438C>T (p.Ala813Val) single nucleotide variant not provided [RCV001091908] Chr5:45262156 [GRCh38]
Chr5:45262258 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.201_218dup (p.Gly69_Gly74dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001211617] Chr5:45695875..45695876 [GRCh38]
Chr5:45695977..45695978 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.10:g.(?_45353080)_(45696113_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031176] Chr5:45353182..45696215 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.84G>A (p.Thr28=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034347] Chr5:45696010 [GRCh38]
Chr5:45696112 [GRCh37]
Chr5:5p12
benign
NM_021072.4(HCN1):c.2159C>A (p.Ala720Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034510] Chr5:45262435 [GRCh38]
Chr5:45262537 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1094C>T (p.Ala365Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034511] Chr5:45396628 [GRCh38]
Chr5:45396730 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1655G>C (p.Ser552Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001207378] Chr5:45267217 [GRCh38]
Chr5:45267319 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2404T>C (p.Ser802Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001071222] Chr5:45262190 [GRCh38]
Chr5:45262292 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.266G>A (p.Arg89Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001041830] Chr5:45695828 [GRCh38]
Chr5:45695930 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1960A>G (p.Thr654Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001214972] Chr5:45262634 [GRCh38]
Chr5:45262736 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1230+1G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001208656] Chr5:45396491 [GRCh38]
Chr5:45396593 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.79G>A (p.Ala27Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001057738] Chr5:45696015 [GRCh38]
Chr5:45696117 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1445del (p.Asn482fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001057897] Chr5:45303772 [GRCh38]
Chr5:45303874 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2189T>C (p.Met730Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001233048] Chr5:45262405 [GRCh38]
Chr5:45262507 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1519G>A (p.Ala507Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001319120]|not provided [RCV001200515] Chr5:45303698 [GRCh38]
Chr5:45303800 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.793C>A (p.Leu265Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001206856] Chr5:45645241 [GRCh38]
Chr5:45645343 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1186T>A (p.Leu396Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001033997] Chr5:45396536 [GRCh38]
Chr5:45396638 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.678C>G (p.Phe226Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001210919] Chr5:45645356 [GRCh38]
Chr5:45645458 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.303G>A (p.Met101Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001064376] Chr5:45695791 [GRCh38]
Chr5:45695893 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.181G>C (p.Val61Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001071822] Chr5:45695913 [GRCh38]
Chr5:45696015 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.295_296delinsGG (p.Thr99Gly) indel Early infantile epileptic encephalopathy with suppression bursts [RCV001054782] Chr5:45695798..45695799 [GRCh38]
Chr5:45695900..45695901 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1969A>G (p.Thr657Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001040647] Chr5:45262625 [GRCh38]
Chr5:45262727 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NM_021072.4(HCN1):c.2125_2126del (p.Gln709fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001052750] Chr5:45262468..45262469 [GRCh38]
Chr5:45262570..45262571 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.195CGG[3] (p.Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001041096] Chr5:45695893..45695894 [GRCh38]
Chr5:45695995..45695996 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001052150]|Epileptic encephalopathy, early infantile, 24 [RCV001253020] Chr5:45396539 [GRCh38]
Chr5:45396641 [GRCh37]
Chr5:5p12
likely benign|uncertain significance
NC_000005.10:g.(?_45645165)_(45645628_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033514] Chr5:45645267..45645730 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2179C>A (p.Leu727Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034103] Chr5:45262415 [GRCh38]
Chr5:45262517 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001063315]|Intellectual disability [RCV001256055] Chr5:45267095 [GRCh38]
Chr5:45267197 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1967C>G (p.Pro656Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001203898] Chr5:45262627 [GRCh38]
Chr5:45262729 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.661T>C (p.Trp221Arg) single nucleotide variant Intellectual disability [RCV001252507] Chr5:45645373 [GRCh38]
Chr5:45645475 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV001253258] Chr5:45303655 [GRCh38]
Chr5:45303757 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.2495G>C (p.Arg832Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001257219] Chr5:45262099 [GRCh38]
Chr5:45262201 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12(chr5:45455695-45647744)x3 copy number gain not provided [RCV001258674] Chr5:45455695..45647744 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1012-3C>T single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV001263002] Chr5:45396713 [GRCh38]
Chr5:45396815 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2260C>T (p.Gln754Ter) single nucleotide variant Intellectual disability [RCV001260716] Chr5:45262334 [GRCh38]
Chr5:45262436 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg) single nucleotide variant Inborn genetic diseases [RCV001266029] Chr5:45695934 [GRCh38]
Chr5:45696036 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1845C>G (p.Asn615Lys) single nucleotide variant Neurodevelopmental abnormality [RCV001264686] Chr5:45262749 [GRCh38]
Chr5:45262851 [GRCh37]
Chr5:5p12
uncertain significance
GRCh37/hg19 5p12-11(chr5:44541478-46389339)x3 copy number gain not provided [RCV001258675] Chr5:44541478..46389339 [GRCh37]
Chr5:5p12-11
uncertain significance
NM_021072.4(HCN1):c.1678C>G (p.Arg560Gly) single nucleotide variant Inborn genetic diseases [RCV001267391] Chr5:45267194 [GRCh38]
Chr5:45267296 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.851T>C (p.Ile284Thr) single nucleotide variant Intellectual disability [RCV001260717] Chr5:45462006 [GRCh38]
Chr5:45462108 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 10 [RCV001262644] Chr5:45353155 [GRCh38]
Chr5:45353257 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2255C>A (p.Ser752Tyr) single nucleotide variant not provided [RCV001311648] Chr5:45262339 [GRCh38]
Chr5:45262441 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1638A>G (p.Lys546=) single nucleotide variant not provided [RCV001311649] Chr5:45267234 [GRCh38]
Chr5:45267336 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1348C>T (p.Leu450Phe) single nucleotide variant not provided [RCV001311650] Chr5:45353129 [GRCh38]
Chr5:45353231 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.203GCG[11] (p.Gly71_Gly74dup) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001302175] Chr5:45695870..45695871 [GRCh38]
Chr5:45695972..45695973 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001339596] Chr5:45267094 [GRCh38]
Chr5:45267196 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1977C>T (p.Arg659=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001351879] Chr5:45262617 [GRCh38]
Chr5:45262719 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.223GAG[1] (p.Glu76del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001343108] Chr5:45695866..45695868 [GRCh38]
Chr5:45695968..45695970 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2303A>G (p.His768Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001326380] Chr5:45262291 [GRCh38]
Chr5:45262393 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2321T>C (p.Leu774Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001312418] Chr5:45262273 [GRCh38]
Chr5:45262375 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.831C>G (p.Tyr277Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001302856] Chr5:45645203 [GRCh38]
Chr5:45645305 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45695751)_(45696215_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001309581] Chr5:45695751..45696215 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45267181)_(45696195_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001309582] Chr5:45267181..45696195 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2565A>G (p.Gly855=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001422208] Chr5:45262029 [GRCh38]
Chr5:45262131 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.694G>A (p.Val232Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295516] Chr5:45645340 [GRCh38]
Chr5:45645442 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2048C>T (p.Pro683Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001361553] Chr5:45262546 [GRCh38]
Chr5:45262648 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001372602] Chr5:45262013 [GRCh38]
Chr5:45262115 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344227]|Epileptic encephalopathy, early infantile, 24 [RCV001336534] Chr5:45695812 [GRCh38]
Chr5:45695914 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360732]|Epileptic encephalopathy, early infantile, 24 [RCV001336535] Chr5:45696020 [GRCh38]
Chr5:45696122 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45262003)_(45262932_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316563] Chr5:45262003..45262932 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45695975_45696384del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001316564]   uncertain significance
NM_021072.4(HCN1):c.1998G>A (p.Pro666=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001312399] Chr5:45262596 [GRCh38]
Chr5:45262698 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.102G>A (p.Ala34=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001370902] Chr5:45695992 [GRCh38]
Chr5:45696094 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1534dup (p.Met512fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001360506] Chr5:45303682..45303683 [GRCh38]
Chr5:45303784..45303785 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.45462097_45462108del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001361903] Chr5:45461995..45462006 [GRCh38]
Chr5:45462097..45462108 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1147G>A (p.Ala383Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001304221] Chr5:45396575 [GRCh38]
Chr5:45396677 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.201_218del (p.Gly69_Gly74del) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001346329] Chr5:45695876..45695893 [GRCh38]
Chr5:45695978..45695995 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_44305097)_(45696195_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001346561] Chr5:44305097..45696195 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2559C>A (p.Asn853Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001371289] Chr5:45262035 [GRCh38]
Chr5:45262137 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45262003)_(45303961_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001316562] Chr5:45262003..45303961 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45262023)_(45696195_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001365122] Chr5:45262023..45696195 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.809G>A (p.Arg270Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001361295] Chr5:45645225 [GRCh38]
Chr5:45645327 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1462C>A (p.Leu488Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001372233] Chr5:45303755 [GRCh38]
Chr5:45303857 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.383A>G (p.Lys128Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001351279] Chr5:45695711 [GRCh38]
Chr5:45695813 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.298T>G (p.Ser100Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001308984] Chr5:45695796 [GRCh38]
Chr5:45695898 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1028A>G (p.Lys343Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001362272] Chr5:45396694 [GRCh38]
Chr5:45396796 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 24 [RCV001329207] Chr5:45262646 [GRCh38]
Chr5:45262748 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2615C>T (p.Ser872Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001363874] Chr5:45261979 [GRCh38]
Chr5:45262081 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1145G>C (p.Gly382Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001370986] Chr5:45396577 [GRCh38]
Chr5:45396679 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001301157]|not provided [RCV001565469] Chr5:45645271 [GRCh38]
Chr5:45645373 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.262C>G (p.Arg88Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001350797] Chr5:45695832 [GRCh38]
Chr5:45695934 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1008G>C (p.Met336Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001340049] Chr5:45461849 [GRCh38]
Chr5:45461951 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2419A>G (p.Thr807Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001366457] Chr5:45262175 [GRCh38]
Chr5:45262277 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001366533] Chr5:45695958 [GRCh38]
Chr5:45696060 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1156_1158dup (p.Tyr386dup) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001366561] Chr5:45396563..45396564 [GRCh38]
Chr5:45396665..45396666 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1378-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001421714] Chr5:45303848 [GRCh38]
Chr5:45303950 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1400G>C (p.Arg467Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001351975] Chr5:45303817 [GRCh38]
Chr5:45303919 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2009C>T (p.Ala670Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001316066] Chr5:45262585 [GRCh38]
Chr5:45262687 [GRCh37]
Chr5:5p12
uncertain significance
NC_000005.9:g.(?_45396584)_(45696195_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001352398] Chr5:45396584..45696195 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2515G>T (p.Val839Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001368202] Chr5:45262079 [GRCh38]
Chr5:45262181 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.1466G>A (p.Ser489Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001352584] Chr5:45303751 [GRCh38]
Chr5:45303853 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.2040C>T (p.Ser680=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001395902] Chr5:45262554 [GRCh38]
Chr5:45262656 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.727A>G (p.Met243Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295634] Chr5:45645307 [GRCh38]
Chr5:45645409 [GRCh37]
Chr5:5p12
uncertain significance
NM_021072.4(HCN1):c.265C>A (p.Arg89=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001495448] Chr5:45695829 [GRCh38]
Chr5:45695931 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1431T>A (p.Ala477=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001464295] Chr5:45303786 [GRCh38]
Chr5:45303888 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.537T>C (p.Asn179=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001464665] Chr5:45645497 [GRCh38]
Chr5:45645599 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.297C>A (p.Thr99=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001479947] Chr5:45695797 [GRCh38]
Chr5:45695899 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.993G>A (p.Val331=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001470971] Chr5:45461864 [GRCh38]
Chr5:45461966 [GRCh37]
Chr5:5p12
likely benign
NC_000005.9:g.(?_45645277)_(45696195_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001488311] Chr5:45645277..45696195 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1783+8A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455366] Chr5:45267081 [GRCh38]
Chr5:45267183 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.519A>T (p.Thr173=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001428657] Chr5:45645515 [GRCh38]
Chr5:45645617 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2442C>T (p.Ser814=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001491604] Chr5:45262152 [GRCh38]
Chr5:45262254 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.426-4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001492872] Chr5:45645612 [GRCh38]
Chr5:45645714 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1950A>G (p.Thr650=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429199] Chr5:45262644 [GRCh38]
Chr5:45262746 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.75G>T (p.Ala25=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001440206] Chr5:45696019 [GRCh38]
Chr5:45696121 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1674T>C (p.Tyr558=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001393539] Chr5:45267198 [GRCh38]
Chr5:45267300 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.279C>T (p.Phe93=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474728] Chr5:45695815 [GRCh38]
Chr5:45695917 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1768C>A (p.Arg590=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474816] Chr5:45267104 [GRCh38]
Chr5:45267206 [GRCh37]
Chr5:5p12
likely benign
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_021072.4(HCN1):c.1497A>G (p.Gly499=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001427435] Chr5:45303720 [GRCh38]
Chr5:45303822 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.939T>C (p.Gly313=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001438449] Chr5:45461918 [GRCh38]
Chr5:45462020 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2478C>T (p.Gly826=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394318] Chr5:45262116 [GRCh38]
Chr5:45262218 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1172G>T (p.Gly391Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001388285] Chr5:45396550 [GRCh38]
Chr5:45396652 [GRCh37]
Chr5:5p12
pathogenic
NM_021072.4(HCN1):c.1218G>A (p.Gln406=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001446467] Chr5:45396504 [GRCh38]
Chr5:45396606 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1113C>T (p.Asp371=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001402713] Chr5:45396609 [GRCh38]
Chr5:45396711 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2469C>T (p.Pro823=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001407707] Chr5:45262125 [GRCh38]
Chr5:45262227 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.573C>A (p.Ile191=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001410289] Chr5:45645461 [GRCh38]
Chr5:45645563 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.348C>T (p.Ser116=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001449545] Chr5:45695746 [GRCh38]
Chr5:45695848 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.78C>T (p.Ser26=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001419085] Chr5:45696016 [GRCh38]
Chr5:45696118 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1908C>T (p.Ile636=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001425386] Chr5:45262686 [GRCh38]
Chr5:45262788 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1230+8_1230+9dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001437591] Chr5:45396482..45396483 [GRCh38]
Chr5:45396584..45396585 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1619-4A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001411068] Chr5:45267257 [GRCh38]
Chr5:45267359 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.420T>C (p.Asp140=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001403958] Chr5:45695674 [GRCh38]
Chr5:45695776 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.84G>C (p.Thr28=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001408819] Chr5:45696010 [GRCh38]
Chr5:45696112 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.312C>T (p.Pro104=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001435331] Chr5:45695782 [GRCh38]
Chr5:45695884 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.234G>A (p.Ala78=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001432169] Chr5:45695860 [GRCh38]
Chr5:45695962 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2364C>T (p.Ala788=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001469016] Chr5:45262230 [GRCh38]
Chr5:45262332 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2475G>C (p.Thr825=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001502987] Chr5:45262119 [GRCh38]
Chr5:45262221 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.189C>A (p.Gly63=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001499943] Chr5:45695905 [GRCh38]
Chr5:45696007 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1209G>A (p.Ser403=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001463063] Chr5:45396513 [GRCh38]
Chr5:45396615 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.1305T>C (p.Tyr435=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001501219] Chr5:45353172 [GRCh38]
Chr5:45353274 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.599A>G (p.Asn200Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001439363] Chr5:45645435 [GRCh38]
Chr5:45645537 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2232G>A (p.Pro744=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001503113] Chr5:45262362 [GRCh38]
Chr5:45262464 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.876C>T (p.Ala292=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001506124] Chr5:45461981 [GRCh38]
Chr5:45462083 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.192T>C (p.Gly64=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001496072] Chr5:45695902 [GRCh38]
Chr5:45696004 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2025C>T (p.His675=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001507106] Chr5:45262569 [GRCh38]
Chr5:45262671 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.105C>G (p.Ala35=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001498638] Chr5:45695989 [GRCh38]
Chr5:45696091 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2598T>C (p.Ala866=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001438250] Chr5:45261996 [GRCh38]
Chr5:45262098 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2077A>G (p.Ile693Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429985] Chr5:45262517 [GRCh38]
Chr5:45262619 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2659G>A (p.Ala887Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001467899] Chr5:45261935 [GRCh38]
Chr5:45262037 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.702T>C (p.Tyr234=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001416083] Chr5:45645332 [GRCh38]
Chr5:45645434 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2253G>C (p.Pro751=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001418164] Chr5:45262341 [GRCh38]
Chr5:45262443 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.2076C>T (p.Ala692=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001456213] Chr5:45262518 [GRCh38]
Chr5:45262620 [GRCh37]
Chr5:5p12
likely benign
NM_021072.4(HCN1):c.115C>T (p.Leu39=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001483997] Chr5:45695979 [GRCh38]
Chr5:45696081 [GRCh37]
Chr5:5p12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4845 AgrOrtholog
COSMIC HCN1 COSMIC
Ensembl Genes ENSG00000164588 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307342 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489134 UniProtKB/TrEMBL
  ENSP00000501107 UniProtKB/TrEMBL
Ensembl Transcript ENST00000303230 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000634658 UniProtKB/TrEMBL
  ENST00000673735 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164588 GTEx
HGNC ID HGNC:4845 ENTREZGENE
Human Proteome Map HCN1 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K/Na_HCN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:348980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 348980 ENTREZGENE
OMIM 602780 OMIM
  615871 OMIM
  618482 OMIM
PANTHER PTHR45689:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA77 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQR7_HUMAN UniProtKB/TrEMBL
  A0A669KB45_HUMAN UniProtKB/TrEMBL
  HCN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86WJ6 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-01-20 HCN1  hyperpolarization activated cyclic nucleotide gated potassium channel 1    hyperpolarization activated cyclic nucleotide-gated potassium channel 1  Symbol and/or name change 5135510 APPROVED