KCNB1 (potassium voltage-gated channel subfamily B member 1) - Rat Genome Database
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Gene: KCNB1 (potassium voltage-gated channel subfamily B member 1) Homo sapiens
Analyze
Symbol: KCNB1
Name: potassium voltage-gated channel subfamily B member 1
RGD ID: 732211
HGNC Page HGNC
Description: Exhibits delayed rectifier potassium channel activity and ion channel binding activity. Involved in action potential; positive regulation of protein targeting to membrane; and potassium ion transmembrane transport. Localizes to voltage-gated potassium channel complex. Implicated in early infantile epileptic encephalopathy 26.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DEE26; delayed rectifier potassium channel 1; delayed rectifier potassium channel Kv2.1; DRK1; EIEE26; h-DRK1; h-DRK1 K(+) channel; KV2.1; potassium channel protein DRK1; potassium channel, voltage gated Shab related subfamily B, member 1; potassium voltage-gated channel, Shab-related subfamily, member 1; voltage-gated potassium channel subunit Kv2.1
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 Ensembl2049,293,394 - 49,484,297 (-)EnsemblGRCh38hg38GRCh38
GRCh382049,363,877 - 49,484,033 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372047,980,414 - 48,099,205 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372047,988,505 - 48,099,181 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362047,421,912 - 47,532,588 (-)NCBINCBI36hg18NCBI36
Build 342047,421,911 - 47,532,588NCBI
Celera2044,693,122 - 44,803,814 (-)NCBI
Cytogenetic Map20q13.13NCBI
HuRef2044,737,067 - 44,847,754 (-)NCBIHuRef
CHM1_12047,884,803 - 48,003,606 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7774931   PMID:8081723   PMID:8670833   PMID:8980147   PMID:9362476   PMID:10484328   PMID:10551266   PMID:10921884   PMID:11780052   PMID:11852086   PMID:12021261   PMID:12060745  
PMID:12403834   PMID:12477932   PMID:12560340   PMID:12615930   PMID:14702039   PMID:15024041   PMID:15353504   PMID:15518587   PMID:15827117   PMID:16008572   PMID:16382104   PMID:16880266  
PMID:18212012   PMID:18690023   PMID:19074135   PMID:19223394   PMID:19265782   PMID:19454037   PMID:19717445   PMID:19953087   PMID:20379614   PMID:20547671   PMID:20566856   PMID:20709754  
PMID:21095721   PMID:21455829   PMID:21873635   PMID:22106938   PMID:22411134   PMID:22442077   PMID:22560931   PMID:23251661   PMID:23431371   PMID:24086760   PMID:24597762   PMID:24667918  
PMID:25056061   PMID:25164438   PMID:25908859   PMID:26240432   PMID:26242757   PMID:26303499   PMID:26377690   PMID:26393286   PMID:26477325   PMID:26487174   PMID:26503721   PMID:26505474  
PMID:26922553   PMID:28144039   PMID:28373283   PMID:28607108   PMID:28768770   PMID:28806457   PMID:29379118   PMID:29941597   PMID:30021884   PMID:30900190   PMID:30922570   PMID:31663850  
PMID:31682765   PMID:32120844   PMID:32484056   PMID:32954514  


Genomics

Comparative Map Data
KCNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2049,293,394 - 49,484,297 (-)EnsemblGRCh38hg38GRCh38
GRCh382049,363,877 - 49,484,033 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372047,980,414 - 48,099,205 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372047,988,505 - 48,099,181 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362047,421,912 - 47,532,588 (-)NCBINCBI36hg18NCBI36
Build 342047,421,911 - 47,532,588NCBI
Celera2044,693,122 - 44,803,814 (-)NCBI
Cytogenetic Map20q13.13NCBI
HuRef2044,737,067 - 44,847,754 (-)NCBIHuRef
CHM1_12047,884,803 - 48,003,606 (-)NCBICHM1_1
Kcnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392166,937,889 - 167,032,088 (-)NCBIGRCm39mm39
GRCm382167,095,969 - 167,190,072 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2167,095,969 - 167,190,155 (-)EnsemblGRCm38mm10GRCm38
MGSCv372166,928,878 - 167,014,299 (-)NCBIGRCm37mm9NCBIm37
MGSCv362166,794,583 - 166,880,004 (-)NCBImm8
Celera2173,043,474 - 173,128,977 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map287.22NCBI
Kcnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23155,820,255 - 155,913,383 (-)NCBI
Rnor_6.0 Ensembl3163,850,785 - 163,935,617 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03163,850,785 - 163,935,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03170,010,756 - 170,094,507 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43158,250,001 - 158,345,927 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13158,156,036 - 158,248,459 (-)NCBI
Celera3154,408,682 - 154,493,576 (-)NCBICelera
RH 3.4 Map31476.0RGD
Cytogenetic Map3q42NCBI
Kcnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554458,680,965 - 8,774,110 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554458,680,979 - 8,779,662 (+)NCBIChiLan1.0ChiLan1.0
KCNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12046,761,428 - 46,885,521 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2046,776,274 - 46,885,521 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02045,636,371 - 45,821,536 (-)NCBIMhudiblu_PPA_v0panPan3
KCNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2436,025,472 - 36,117,934 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12436,016,800 - 36,118,873 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Kcnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365144,827,156 - 4,902,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1751,039,956 - 51,144,696 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11751,032,163 - 51,152,566 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21757,354,303 - 57,464,782 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1214,510,176 - 14,623,054 (+)NCBI
ChlSab1.1 Ensembl214,510,464 - 14,619,023 (+)Ensembl
Kcnb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247905,901,809 - 6,007,847 (+)NCBI

Position Markers
D20S809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,033,063 - 48,033,296UniSTSGRCh37
Build 362047,466,470 - 47,466,703RGDNCBI36
Celera2044,737,686 - 44,737,919RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,781,628 - 44,781,861UniSTS
Stanford-G3 RH Map202440.0UniSTS
NCBI RH Map20508.7UniSTS
AL031795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,078,039 - 48,078,190UniSTSGRCh37
Build 362047,511,446 - 47,511,597RGDNCBI36
Celera2044,782,669 - 44,782,820RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,826,609 - 44,826,760UniSTS
KCNB1_1313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,988,412 - 47,989,302UniSTSGRCh37
Build 362047,421,819 - 47,422,709RGDNCBI36
Celera2044,693,029 - 44,693,919RGD
HuRef2044,736,974 - 44,737,864UniSTS
D20S1096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,989,108 - 47,989,446UniSTSGRCh37
Build 362047,422,515 - 47,422,853RGDNCBI36
Celera2044,693,725 - 44,694,063RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,737,670 - 44,738,008UniSTS
GeneMap99-GB4 RH Map20270.83UniSTS
GeneMap99-GB4 RH Map20271.96UniSTS
Whitehead-RH Map20313.4UniSTS
GeneMap99-G3 RH Map202473.0UniSTS
G01535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372048,012,827 - 48,013,010UniSTSGRCh37
Build 362047,446,234 - 47,446,417RGDNCBI36
Celera2044,717,453 - 44,717,636RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,761,377 - 44,761,575UniSTS
SHGC-31067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372047,988,542 - 47,988,645UniSTSGRCh37
Build 362047,421,949 - 47,422,052RGDNCBI36
Celera2044,693,159 - 44,693,262RGD
Cytogenetic Map20q13.2UniSTS
HuRef2044,737,104 - 44,737,207UniSTS
GeneMap99-GB4 RH Map20290.92UniSTS
Whitehead-RH Map20313.2UniSTS
GeneMap99-G3 RH Map202473.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3695
Count of miRNA genes:1210
Interacting mature miRNAs:1522
Transcripts:ENST00000371741
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 entire extraembryonic component
High
Medium 688 1 12 8 14 8 102 544 664 9 73 27 1 1 86 52
Low 1215 1417 724 391 408 247 3286 1328 2917 130 972 521 144 1104 2298 1
Below cutoff 394 1557 954 201 886 184 904 307 115 207 328 955 22 14 438

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000371741   ⟹   ENSP00000360806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,363,877 - 49,482,668 (-)Ensembl
RefSeq Acc Id: ENST00000635210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,374,800 - 49,387,005 (-)Ensembl
RefSeq Acc Id: ENST00000635465   ⟹   ENSP00000489193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,371,968 - 49,484,297 (-)Ensembl
RefSeq Acc Id: ENST00000635809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,482,571 - 49,483,334 (-)Ensembl
RefSeq Acc Id: ENST00000635878   ⟹   ENSP00000489908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,298,107 - 49,482,009 (-)Ensembl
RefSeq Acc Id: ENST00000636838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,293,394 - 49,372,950 (-)Ensembl
RefSeq Acc Id: ENST00000636950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,451,333 - 49,482,000 (-)Ensembl
RefSeq Acc Id: ENST00000637131   ⟹   ENSP00000489766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,310,513 - 49,373,103 (-)Ensembl
RefSeq Acc Id: ENST00000637357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2049,476,361 - 49,482,000 (-)Ensembl
RefSeq Acc Id: NM_004975   ⟹   NP_004966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,363,877 - 49,482,668 (-)NCBI
GRCh372047,988,505 - 48,099,181 (-)ENTREZGENE
Build 362047,421,912 - 47,532,588 (-)NCBI Archive
HuRef2044,737,067 - 44,847,754 (-)ENTREZGENE
CHM1_12047,884,803 - 48,003,606 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723784   ⟹   XP_006723847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,363,880 - 49,484,033 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528799   ⟹   XP_011527101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,363,880 - 49,483,361 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004966   ⟸   NM_004975
- UniProtKB: Q14721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723847   ⟸   XM_006723784
- Peptide Label: isoform X1
- UniProtKB: Q14721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527101   ⟸   XM_011528799
- Peptide Label: isoform X1
- UniProtKB: Q14721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000489193   ⟸   ENST00000635465
RefSeq Acc Id: ENSP00000360806   ⟸   ENST00000371741
RefSeq Acc Id: ENSP00000489908   ⟸   ENST00000635878
RefSeq Acc Id: ENSP00000489766   ⟸   ENST00000637131
Protein Domains
BTB

Promoters
RGD ID:13207225
Promoter ID:EPDNEW_H27193
Type:initiation region
Name:KCNB1_2
Description:potassium voltage-gated channel subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27194  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,482,668 - 49,482,728EPDNEW
RGD ID:13207227
Promoter ID:EPDNEW_H27194
Type:initiation region
Name:KCNB1_1
Description:potassium voltage-gated channel subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382049,484,278 - 49,484,338EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004975.4(KCNB1):c.567+3G>A single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000556531] Chr20:49481911 [GRCh38]
Chr20:48098448 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) single nucleotide variant not provided [RCV000521815] Chr20:49374565 [GRCh38]
Chr20:47991102 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000541797] Chr20:49373833 [GRCh38]
Chr20:47990370 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1898G>A (p.Ser633Asn) single nucleotide variant not provided [RCV000523260] Chr20:49373662 [GRCh38]
Chr20:47990199 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1144G>C (p.Asp382His) single nucleotide variant not provided [RCV000523290] Chr20:49374416 [GRCh38]
Chr20:47990953 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.513G>A (p.Lys171=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000550942] Chr20:49481968 [GRCh38]
Chr20:48098505 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) single nucleotide variant Epileptic encephalopathy [RCV000782162]|Epileptic encephalopathy, early infantile, 26 [RCV000656399]|Intellectual disability [RCV001255320] Chr20:49374377 [GRCh38]
Chr20:47990914 [GRCh37]
Chr20:20q13.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.937C>T (p.His313Tyr) single nucleotide variant not provided [RCV000519170] Chr20:49374623 [GRCh38]
Chr20:47991160 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2091C>G (p.Asn697Lys) single nucleotide variant not provided [RCV000522104] Chr20:49373469 [GRCh38]
Chr20:47990006 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) single nucleotide variant Epileptic encephalopathy [RCV000782152]|Epileptic encephalopathy, early infantile, 26 [RCV000557112] Chr20:49374519 [GRCh38]
Chr20:47991056 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000548517] Chr20:49374172 [GRCh38]
Chr20:47990709 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=) single nucleotide variant not provided [RCV000550466] Chr20:49374353 [GRCh38]
Chr20:47990890 [GRCh37]
Chr20:20q13.13
likely benign
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_004975.2(KCNB1):c.2291G>A (p.Gly764Glu) single nucleotide variant Malignant melanoma [RCV000072681] Chr20:49373269 [GRCh38]
Chr20:47989806 [GRCh37]
Chr20:47423213 [NCBI36]
Chr20:20q13.13
not provided
NM_004975.2(KCNB1):c.2290G>A (p.Gly764Arg) single nucleotide variant Malignant melanoma [RCV000072682] Chr20:49373270 [GRCh38]
Chr20:47989807 [GRCh37]
Chr20:47423214 [NCBI36]
Chr20:20q13.13
not provided
NM_004975.2(KCNB1):c.2203C>T (p.Pro735Ser) single nucleotide variant Malignant melanoma [RCV000072683] Chr20:49373357 [GRCh38]
Chr20:47989894 [GRCh37]
Chr20:47423301 [NCBI36]
Chr20:20q13.13
not provided
NM_004975.2(KCNB1):c.159C>T (p.Pro53=) single nucleotide variant Malignant melanoma [RCV000063765] Chr20:49482322 [GRCh38]
Chr20:48098859 [GRCh37]
Chr20:47532266 [NCBI36]
Chr20:20q13.13
not provided
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000144689]|Inborn genetic diseases [RCV001266628] Chr20:49374519 [GRCh38]
Chr20:47991056 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000144690]|not provided [RCV000444433] Chr20:49374439 [GRCh38]
Chr20:47990976 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000144691] Chr20:49374425 [GRCh38]
Chr20:47990962 [GRCh37]
Chr20:20q13.13
pathogenic
GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3 copy number gain See cases [RCV000135367] Chr20:49098782..49465707 [GRCh38]
Chr20:47715319..48082244 [GRCh37]
Chr20:47148726..47515651 [NCBI36]
Chr20:20q13.13
uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3 copy number gain See cases [RCV000139593] Chr20:48756586..49532355 [GRCh38]
Chr20:47373123..48148892 [GRCh37]
Chr20:46806530..47582299 [NCBI36]
Chr20:20q13.13
uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1 copy number loss See cases [RCV000167570] Chr20:47682662..49884981 [GRCh37]
Chr20:20q13.13-13.2
likely pathogenic
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000528443]|Inborn genetic diseases [RCV001267282]|Intellectual disability [RCV000782147]|not provided [RCV000255550] Chr20:49374626 [GRCh38]
Chr20:47991163 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000559563]|not specified [RCV000612907] Chr20:49373044 [GRCh38]
Chr20:47989581 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000799571]|not provided [RCV000519199] Chr20:49374370 [GRCh38]
Chr20:47990907 [GRCh37]
Chr20:20q13.13
likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs) duplication not provided [RCV000275163] Chr20:49374739..49374740 [GRCh38]
Chr20:47991276..47991277 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg) single nucleotide variant not provided [RCV000289518] Chr20:49374452 [GRCh38]
Chr20:47990989 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1573_1587dup (p.Asn525_Leu529dup) duplication not provided [RCV000489237] Chr20:49373972..49373973 [GRCh38]
Chr20:47990509..47990510 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001088590]|not provided [RCV000487902]|not specified [RCV000603063] Chr20:49373236 [GRCh38]
Chr20:47989773 [GRCh37]
Chr20:20q13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004975.4(KCNB1):c.114G>T (p.Gly38=) single nucleotide variant not specified [RCV000600909] Chr20:49482367 [GRCh38]
Chr20:48098904 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000768242] Chr20:49374294 [GRCh38]
Chr20:47990831 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs) indel not provided [RCV000598646] Chr20:49374899 [GRCh38]
Chr20:47991436 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1310_1311AG[2] (p.Arg438fs) microsatellite not provided [RCV000599466] Chr20:49374245..49374246 [GRCh38]
Chr20:47990782..47990783 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000529855] Chr20:49373360 [GRCh38]
Chr20:47989897 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000699040]|not provided [RCV000413312] Chr20:49374652 [GRCh38]
Chr20:47991189 [GRCh37]
Chr20:20q13.13
likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) single nucleotide variant not specified [RCV000413687] Chr20:49373149 [GRCh38]
Chr20:47989686 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.-13G>A single nucleotide variant not specified [RCV000437718] Chr20:49482493 [GRCh38]
Chr20:48099030 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) single nucleotide variant not specified [RCV000441380] Chr20:49482070 [GRCh38]
Chr20:48098607 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652435]|not provided [RCV001093362]|not specified [RCV000420870] Chr20:49374255 [GRCh38]
Chr20:47990792 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) single nucleotide variant not specified [RCV000434723] Chr20:49373310 [GRCh38]
Chr20:47989847 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652434]|not specified [RCV000438065] Chr20:49373424 [GRCh38]
Chr20:47989961 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.568-18A>G single nucleotide variant not specified [RCV000438160] Chr20:49375010 [GRCh38]
Chr20:47991547 [GRCh37]
Chr20:20q13.13
benign|likely benign
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652425]|not specified [RCV000441941] Chr20:49373984 [GRCh38]
Chr20:47990521 [GRCh37]
Chr20:20q13.13
benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) single nucleotide variant not specified [RCV000431801] Chr20:49374705 [GRCh38]
Chr20:47991242 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.568-9T>C single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000921845]|not specified [RCV000438300] Chr20:49375001 [GRCh38]
Chr20:47991538 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000547716]|not provided [RCV000712109]|not specified [RCV000418263] Chr20:49373723 [GRCh38]
Chr20:47990260 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000935557]|not specified [RCV000421178] Chr20:49373088 [GRCh38]
Chr20:47989625 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.938A>G (p.His313Arg) single nucleotide variant not provided [RCV000417762] Chr20:49374622 [GRCh38]
Chr20:47991159 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034480]|Seizures [RCV001255109]|not specified [RCV000421360] Chr20:49373118 [GRCh38]
Chr20:47989655 [GRCh37]
Chr20:20q13.13
benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652431]|not specified [RCV000424865] Chr20:49373226 [GRCh38]
Chr20:47989763 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) single nucleotide variant not provided [RCV000435306] Chr20:49373837 [GRCh38]
Chr20:47990374 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) single nucleotide variant not specified [RCV000438735] Chr20:49373184 [GRCh38]
Chr20:47989721 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652427]|not specified [RCV000421488] Chr20:49482304 [GRCh38]
Chr20:48098841 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000878155]|not specified [RCV000439034] Chr20:49373196 [GRCh38]
Chr20:47989733 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) single nucleotide variant not specified [RCV000439180] Chr20:49481935 [GRCh38]
Chr20:48098472 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.-29C>G single nucleotide variant not specified [RCV000419018] Chr20:49482509 [GRCh38]
Chr20:48099046 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.-47G>A single nucleotide variant not specified [RCV000428913] Chr20:49482527 [GRCh38]
Chr20:48099064 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000543821]|not specified [RCV000442887] Chr20:49482442 [GRCh38]
Chr20:48098979 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652429]|not specified [RCV000421976] Chr20:49373445 [GRCh38]
Chr20:47989982 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) single nucleotide variant not specified [RCV000432383] Chr20:49374660 [GRCh38]
Chr20:47991197 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000560862]|not specified [RCV000419598] Chr20:49374264 [GRCh38]
Chr20:47990801 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000534631]|not specified [RCV000425763] Chr20:49374193 [GRCh38]
Chr20:47990730 [GRCh37]
Chr20:20q13.13
benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1821C>T (p.Ser607=) single nucleotide variant not specified [RCV000432698] Chr20:49373739 [GRCh38]
Chr20:47990276 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.198C>T (p.His66=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000541025]|not specified [RCV000422399] Chr20:49482283 [GRCh38]
Chr20:48098820 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000556086]|not specified [RCV000425857] Chr20:49373454 [GRCh38]
Chr20:47989991 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001247945]|not specified [RCV000432864] Chr20:49373680 [GRCh38]
Chr20:47990217 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001082241]|not provided [RCV000712108]|not specified [RCV000436339] Chr20:49374378 [GRCh38]
Chr20:47990915 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) single nucleotide variant not specified [RCV000433111] Chr20:49373502 [GRCh38]
Chr20:47990039 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.*17G>A single nucleotide variant not specified [RCV000440123] Chr20:49372966 [GRCh38]
Chr20:47989503 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) single nucleotide variant not specified [RCV000429908] Chr20:49374930 [GRCh38]
Chr20:47991467 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000544909]|not provided [RCV000712111]|not specified [RCV000436736] Chr20:49373087 [GRCh38]
Chr20:47989624 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) single nucleotide variant not specified [RCV000443975] Chr20:49373867 [GRCh38]
Chr20:47990404 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000526010]|not provided [RCV000712110]|not specified [RCV000444175] Chr20:49373713 [GRCh38]
Chr20:47990250 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) single nucleotide variant not specified [RCV000423062] Chr20:49373505 [GRCh38]
Chr20:47990042 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000533612]|not provided [RCV000712112]|not specified [RCV000426573] Chr20:49372990 [GRCh38]
Chr20:47989527 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1788A>T (p.Thr596=) single nucleotide variant not provided [RCV000925794]|not specified [RCV000444261] Chr20:49373772 [GRCh38]
Chr20:47990309 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000555745]|not specified [RCV000437191] Chr20:49373563 [GRCh38]
Chr20:47990100 [GRCh37]
Chr20:20q13.13
benign|likely benign|uncertain significance
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000877900]|not specified [RCV000420375] Chr20:49373826 [GRCh38]
Chr20:47990363 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.568-20C>T single nucleotide variant not specified [RCV000426926] Chr20:49375012 [GRCh38]
Chr20:47991549 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000906046]|not specified [RCV000427092] Chr20:49482430 [GRCh38]
Chr20:48098967 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000527045]|not specified [RCV000437556] Chr20:49374171 [GRCh38]
Chr20:47990708 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys) single nucleotide variant not provided [RCV000441478] Chr20:49374503 [GRCh38]
Chr20:47991040 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000763447]|not provided [RCV000482147] Chr20:49374263 [GRCh38]
Chr20:47990800 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000477875] Chr20:49374955 [GRCh38]
Chr20:47991492 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala) single nucleotide variant not provided [RCV000483295] Chr20:49374295 [GRCh38]
Chr20:47990832 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000477903]|Infantile epileptic dyskinetic encephalopathy [RCV001249557] Chr20:49374407 [GRCh38]
Chr20:47990944 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
GRCh37/hg19 20q13.13(chr20:47427610-48085774)x3 copy number gain See cases [RCV000510231] Chr20:47427610..48085774 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.113G>C (p.Gly38Ala) single nucleotide variant not provided [RCV000498592] Chr20:49482368 [GRCh38]
Chr20:48098905 [GRCh37]
Chr20:20q13.13
uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1 copy number loss See cases [RCV000511555] Chr20:47627844..52045480 [GRCh37]
Chr20:20q13.13-13.2
pathogenic
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) single nucleotide variant not provided [RCV000494002] Chr20:49374570 [GRCh38]
Chr20:47991107 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000697036]|not provided [RCV000494453] Chr20:49373168 [GRCh38]
Chr20:47989705 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000701236]|not provided [RCV000731272] Chr20:49373236 [GRCh38]
Chr20:47989773 [GRCh37]
Chr20:20q13.13
uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1 copy number loss See cases [RCV000511416] Chr20:47726521..50427649 [GRCh37]
Chr20:20q13.13-13.2
likely pathogenic
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) single nucleotide variant not specified [RCV000493113] Chr20:49374962 [GRCh38]
Chr20:47991499 [GRCh37]
Chr20:20q13.13
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004975.4(KCNB1):c.702C>T (p.Ala234=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000549899] Chr20:49374858 [GRCh38]
Chr20:47991395 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.472C>A (p.Arg158=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000557652] Chr20:49482009 [GRCh38]
Chr20:48098546 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=) single nucleotide variant not provided [RCV000530900] Chr20:49373511 [GRCh38]
Chr20:47990048 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) single nucleotide variant not specified [RCV000604826] Chr20:49374444 [GRCh38]
Chr20:47990981 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000535124] Chr20:49374982 [GRCh38]
Chr20:47991519 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.492T>C (p.Asp164=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000535907] Chr20:49481989 [GRCh38]
Chr20:48098526 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) single nucleotide variant Inborn genetic diseases [RCV000622509] Chr20:49374572 [GRCh38]
Chr20:47991109 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000973076]|not specified [RCV000606445] Chr20:49482106 [GRCh38]
Chr20:48098643 [GRCh37]
Chr20:20q13.13
benign|likely benign
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000541096] Chr20:49373469 [GRCh38]
Chr20:47990006 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000960454]|not specified [RCV000615935] Chr20:49374009 [GRCh38]
Chr20:47990546 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.939C>T (p.His313=) single nucleotide variant not specified [RCV000613387] Chr20:49374621 [GRCh38]
Chr20:47991158 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) single nucleotide variant not specified [RCV000613454] Chr20:49482385 [GRCh38]
Chr20:48098922 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) single nucleotide variant not specified [RCV000608329] Chr20:49374849 [GRCh38]
Chr20:47991386 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.693C>T (p.His231=) single nucleotide variant not specified [RCV000613862] Chr20:49374867 [GRCh38]
Chr20:47991404 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000952176]|not specified [RCV000614313] Chr20:49373040 [GRCh38]
Chr20:47989577 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) single nucleotide variant not specified [RCV000608893] Chr20:49374747 [GRCh38]
Chr20:47991284 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) single nucleotide variant not specified [RCV000608896] Chr20:49481977 [GRCh38]
Chr20:48098514 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652423] Chr20:49373408 [GRCh38]
Chr20:47989945 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652424]|KCNB1-related disorder [RCV000677403]|developmental encephalopathy with epilepsy [RCV001249559] Chr20:49374931 [GRCh38]
Chr20:47991468 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.568-5C>T single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001086301]|not provided [RCV000652426] Chr20:49374997 [GRCh38]
Chr20:47991534 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) deletion Epileptic encephalopathy, early infantile, 26 [RCV000652422] Chr20:49374472 [GRCh38]
Chr20:47991009 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652428] Chr20:49374489 [GRCh38]
Chr20:47991026 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652430] Chr20:49374393 [GRCh38]
Chr20:47990930 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) single nucleotide variant not provided [RCV000652432] Chr20:49373655 [GRCh38]
Chr20:47990192 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000652433] Chr20:49373197 [GRCh38]
Chr20:47989734 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) single nucleotide variant not specified [RCV000604751] Chr20:49482400 [GRCh38]
Chr20:48098937 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) single nucleotide variant Epileptic encephalopathy [RCV000782146]|Epileptic encephalopathy, early infantile, 26 [RCV000688503]|Intellectual disability [RCV001255349]|Myoclonic absences [RCV001003632]|developmental encephalopathy with epilepsy [RCV001249560]|not provided [RCV000520238] Chr20:49374644 [GRCh38]
Chr20:47991181 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) single nucleotide variant Epileptic encephalopathy [RCV000782148]|Infantile epileptic dyskinetic encephalopathy [RCV001249561]|Intellectual disability [RCV001257726]|Seizures [RCV000626870]|developmental encephalopathy with epilepsy [RCV001249555]|not provided [RCV001171607] Chr20:49374625 [GRCh38]
Chr20:47991162 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000686798] Chr20:49374417 [GRCh38]
Chr20:47990954 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) single nucleotide variant not provided [RCV000658369] Chr20:49373248 [GRCh38]
Chr20:47989785 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) single nucleotide variant Epileptic encephalopathy [RCV000782151]|Epileptic encephalopathy, early infantile, 26 [RCV000677688] Chr20:49374559 [GRCh38]
Chr20:47991096 [GRCh37]
Chr20:20q13.13
likely pathogenic
Single allele duplication not provided [RCV000677941] Chr20:46962638..50647699 [GRCh37]
Chr20:20q13.13-13.2
uncertain significance
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000688265] Chr20:49374167 [GRCh38]
Chr20:47990704 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000698867] Chr20:49373209 [GRCh38]
Chr20:47989746 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000687101] Chr20:49373288 [GRCh38]
Chr20:47989825 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000701515] Chr20:49373233 [GRCh38]
Chr20:47989770 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000706779] Chr20:49482010 [GRCh38]
Chr20:48098547 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) single nucleotide variant not provided [RCV000688433] Chr20:49373240 [GRCh38]
Chr20:47989777 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000699132] Chr20:49373551 [GRCh38]
Chr20:47990088 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000694403] Chr20:49373357 [GRCh38]
Chr20:47989894 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000700655]|Seizures [RCV001281564] Chr20:49482462 [GRCh38]
Chr20:48098999 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000704548] Chr20:49482355 [GRCh38]
Chr20:48098892 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000705320] Chr20:49373444 [GRCh38]
Chr20:47989981 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000699453] Chr20:49373455 [GRCh38]
Chr20:47989992 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000694167] Chr20:49374748 [GRCh38]
Chr20:47991285 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000699581] Chr20:49374418 [GRCh38]
Chr20:47990955 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile) single nucleotide variant not provided [RCV000703731] Chr20:49374224 [GRCh38]
Chr20:47990761 [GRCh37]
Chr20:20q13.13
likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.13(chr20:47938833-48025102)x3 copy number gain not provided [RCV000741248] Chr20:47938833..48025102 [GRCh37]
Chr20:20q13.13
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) single nucleotide variant not provided [RCV000940203] Chr20:49373455 [GRCh38]
Chr20:47989992 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000990313] Chr20:49374965 [GRCh38]
Chr20:47991502 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000985159] Chr20:49374338 [GRCh38]
Chr20:47990875 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.99C>A (p.Val33=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000959489] Chr20:49482382 [GRCh38]
Chr20:48098919 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000879433] Chr20:49373699 [GRCh38]
Chr20:47990236 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs) duplication Epileptic encephalopathy, early infantile, 26 [RCV001059170]|Rare genetic intellectual disability [RCV001257030] Chr20:49373353..49373354 [GRCh38]
Chr20:47989890..47989891 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001048083] Chr20:49373326 [GRCh38]
Chr20:47989863 [GRCh37]
Chr20:20q13.13
uncertain significance
NC_000020.11:g.(?_49372963)_(49375012_?)del deletion Epileptic encephalopathy, early infantile, 26 [RCV001032529] Chr20:47989500..47991549 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001070308] Chr20:49374857 [GRCh38]
Chr20:47991394 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034169] Chr20:49373197 [GRCh38]
Chr20:47989734 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034297] Chr20:49482477 [GRCh38]
Chr20:48099014 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034350] Chr20:49373938 [GRCh38]
Chr20:47990475 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034371] Chr20:49373713 [GRCh38]
Chr20:47990250 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001057679] Chr20:49374820 [GRCh38]
Chr20:47991357 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) single nucleotide variant Epileptic encephalopathy [RCV000782143] Chr20:49482353 [GRCh38]
Chr20:48098890 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) single nucleotide variant Intellectual disability [RCV000782166] Chr20:49374071 [GRCh38]
Chr20:47990608 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2086A>C (p.Arg696=) single nucleotide variant not provided [RCV000919761] Chr20:49373474 [GRCh38]
Chr20:47990011 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.615C>T (p.Ala205=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000939851] Chr20:49374945 [GRCh38]
Chr20:47991482 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.210C>G (p.Leu70=) single nucleotide variant not provided [RCV000980860] Chr20:49482271 [GRCh38]
Chr20:48098808 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.651C>T (p.Leu217=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000940304] Chr20:49374909 [GRCh38]
Chr20:47991446 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.568-10C>T single nucleotide variant not provided [RCV000980856] Chr20:49375002 [GRCh38]
Chr20:47991539 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2529G>A (p.Val843=) single nucleotide variant not provided [RCV000981928] Chr20:49373031 [GRCh38]
Chr20:47989568 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000809665] Chr20:49373855 [GRCh38]
Chr20:47990392 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000822606] Chr20:49482174 [GRCh38]
Chr20:48098711 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1326T>C (p.Asn442=) single nucleotide variant not provided [RCV000828046] Chr20:49374234 [GRCh38]
Chr20:47990771 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000824180] Chr20:49374102 [GRCh38]
Chr20:47990639 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) single nucleotide variant not provided [RCV000840141] Chr20:49373760 [GRCh38]
Chr20:47990297 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) single nucleotide variant Epileptic encephalopathy [RCV000782163] Chr20:49374359 [GRCh38]
Chr20:47990896 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) single nucleotide variant Intellectual disability [RCV000782164] Chr20:49374334 [GRCh38]
Chr20:47990871 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000802345] Chr20:49373417 [GRCh38]
Chr20:47989954 [GRCh37]
Chr20:20q13.13
uncertain significance
GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1 copy number loss not provided [RCV000848716] Chr20:48023123..48581111 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) single nucleotide variant not provided [RCV000997787] Chr20:49373354 [GRCh38]
Chr20:47989891 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1503T>C (p.Ser501=) single nucleotide variant not provided [RCV000842391] Chr20:49374057 [GRCh38]
Chr20:47990594 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000990311]|Intellectual disability [RCV000782167] Chr20:49373813 [GRCh38]
Chr20:47990350 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) single nucleotide variant Epileptic encephalopathy [RCV000782149] Chr20:49374592 [GRCh38]
Chr20:47991129 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) single nucleotide variant Epileptic encephalopathy [RCV000782153] Chr20:49374515 [GRCh38]
Chr20:47991052 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) single nucleotide variant Epileptic encephalopathy [RCV000782154]|Epileptic encephalopathy, early infantile, 26 [RCV000805612] Chr20:49374455 [GRCh38]
Chr20:47990992 [GRCh37]
Chr20:20q13.13
pathogenic|uncertain significance
NM_004975.4(KCNB1):c.-51G>C single nucleotide variant not provided [RCV000836929] Chr20:49482531 [GRCh38]
Chr20:48099068 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) indel Epileptic encephalopathy, early infantile, 26 [RCV000824492] Chr20:49374687..49374697 [GRCh38]
Chr20:47991224..47991234 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000792804] Chr20:49373597 [GRCh38]
Chr20:47990134 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter) single nucleotide variant Epileptic encephalopathy [RCV000782150] Chr20:49374576 [GRCh38]
Chr20:47991113 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn) single nucleotide variant Epileptic encephalopathy [RCV000782157] Chr20:49374430 [GRCh38]
Chr20:47990967 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) single nucleotide variant Epileptic encephalopathy [RCV000782159]|Epileptic encephalopathy, early infantile, 26 [RCV001253039] Chr20:49374421 [GRCh38]
Chr20:47990958 [GRCh37]
Chr20:20q13.13
pathogenic|uncertain significance
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) single nucleotide variant Epileptic encephalopathy [RCV000782160] Chr20:49374416 [GRCh38]
Chr20:47990953 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) single nucleotide variant Epileptic encephalopathy [RCV000782165] Chr20:49374312 [GRCh38]
Chr20:47990849 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) single nucleotide variant Intellectual disability [RCV000782156] Chr20:49374445 [GRCh38]
Chr20:47990982 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) single nucleotide variant Epileptic encephalopathy [RCV000782161] Chr20:49374380 [GRCh38]
Chr20:47990917 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001065353] Chr20:49374314 [GRCh38]
Chr20:47990851 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.117del (p.Leu40fs) deletion Epileptic encephalopathy, early infantile, 26 [RCV000806054] Chr20:49482364 [GRCh38]
Chr20:48098901 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000801458] Chr20:49374823 [GRCh38]
Chr20:47991360 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000818286] Chr20:49373425 [GRCh38]
Chr20:47989962 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000818528] Chr20:49373698 [GRCh38]
Chr20:47990235 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000816106] Chr20:49374343 [GRCh38]
Chr20:47990880 [GRCh37]
Chr20:20q13.13
likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) single nucleotide variant not provided [RCV000837788] Chr20:49482238 [GRCh38]
Chr20:48098775 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000800093] Chr20:49373497 [GRCh38]
Chr20:47990034 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000800346] Chr20:49373905 [GRCh38]
Chr20:47990442 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.857del (p.Val286fs) deletion Epileptic encephalopathy [RCV000782145] Chr20:49374703 [GRCh38]
Chr20:47991240 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg) single nucleotide variant Epileptic encephalopathy [RCV000782144] Chr20:49374931 [GRCh38]
Chr20:47991468 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile) single nucleotide variant Intellectual disability [RCV000782155] Chr20:49374445 [GRCh38]
Chr20:47990982 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) single nucleotide variant Epileptic encephalopathy [RCV000782158] Chr20:49374428 [GRCh38]
Chr20:47990965 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.900C>T (p.Arg300=) single nucleotide variant not provided [RCV000920353] Chr20:49374660 [GRCh38]
Chr20:47991197 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.567+49C>T single nucleotide variant not provided [RCV000842040] Chr20:49481865 [GRCh38]
Chr20:48098402 [GRCh37]
Chr20:20q13.13
likely benign
NC_000020.11:g.(?_48921870)_(49482500_?)del deletion Epileptic encephalopathy, early infantile, 26 [RCV001031370] Chr20:47538407..48099037 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) single nucleotide variant not provided [RCV000997790] Chr20:49482109 [GRCh38]
Chr20:48098646 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter) single nucleotide variant Intellectual disability [RCV001257728]|not provided [RCV001008712] Chr20:49374917 [GRCh38]
Chr20:47991454 [GRCh37]
Chr20:20q13.13
pathogenic|likely pathogenic
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter) duplication not provided [RCV001008738] Chr20:49374220..49374221 [GRCh38]
Chr20:47990757..47990758 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001027969] Chr20:49374032 [GRCh38]
Chr20:47990569 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1095del (p.Ala366fs) deletion not provided [RCV001009125] Chr20:49374465 [GRCh38]
Chr20:47991002 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850450] Chr20:49374320 [GRCh38]
Chr20:47990857 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001231182] Chr20:49373023 [GRCh38]
Chr20:47989560 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001202830] Chr20:49374194 [GRCh38]
Chr20:47990731 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001210980] Chr20:49374430 [GRCh38]
Chr20:47990967 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001213195] Chr20:49374933 [GRCh38]
Chr20:47991470 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001205931] Chr20:49482398 [GRCh38]
Chr20:48098935 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001213891] Chr20:49374415 [GRCh38]
Chr20:47990952 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001209556] Chr20:49374683 [GRCh38]
Chr20:47991220 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001235544] Chr20:49373461 [GRCh38]
Chr20:47989998 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001223474] Chr20:49373288 [GRCh38]
Chr20:47989825 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys) single nucleotide variant not provided [RCV001200152] Chr20:49374955 [GRCh38]
Chr20:47991492 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001207552] Chr20:49373467 [GRCh38]
Chr20:47990004 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001230456] Chr20:49374437 [GRCh38]
Chr20:47990974 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV000990312] Chr20:49374746 [GRCh38]
Chr20:47991283 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2342G>A (p.Ser781Asn) single nucleotide variant not provided [RCV001200151] Chr20:49373218 [GRCh38]
Chr20:47989755 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001230507] Chr20:49373150 [GRCh38]
Chr20:47989687 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val) single nucleotide variant not provided [RCV000916619] Chr20:49373104 [GRCh38]
Chr20:47989641 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2085C>G (p.Leu695=) single nucleotide variant not provided [RCV000970760] Chr20:49373475 [GRCh38]
Chr20:47990012 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001210501] Chr20:49373144 [GRCh38]
Chr20:47989681 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001225867] Chr20:49374215 [GRCh38]
Chr20:47990752 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001238873] Chr20:49373356 [GRCh38]
Chr20:47989893 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001218964] Chr20:49373600 [GRCh38]
Chr20:47990137 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) single nucleotide variant not provided [RCV001093363] Chr20:49374427 [GRCh38]
Chr20:47990964 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala) single nucleotide variant not provided [RCV001093364] Chr20:49374620 [GRCh38]
Chr20:47991157 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001219959] Chr20:49374205 [GRCh38]
Chr20:47990742 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034177] Chr20:49373089 [GRCh38]
Chr20:47989626 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001225428] Chr20:49373579 [GRCh38]
Chr20:47990116 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001221859] Chr20:49482049 [GRCh38]
Chr20:48098586 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) single nucleotide variant not provided [RCV000997789] Chr20:49374719 [GRCh38]
Chr20:47991256 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) single nucleotide variant not provided [RCV000997788] Chr20:49373433 [GRCh38]
Chr20:47989970 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034110] Chr20:49373681 [GRCh38]
Chr20:47990218 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034379] Chr20:49373143 [GRCh38]
Chr20:47989680 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp) single nucleotide variant Intellectual disability [RCV001252021] Chr20:49374162 [GRCh38]
Chr20:47990699 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034486] Chr20:49374266 [GRCh38]
Chr20:47990803 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001066705] Chr20:49374545 [GRCh38]
Chr20:47991082 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2558C>T (p.Thr853Ile) single nucleotide variant not provided [RCV001093360] Chr20:49373002 [GRCh38]
Chr20:47989539 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) single nucleotide variant not provided [RCV001093361] Chr20:49373623 [GRCh38]
Chr20:47990160 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.567G>C (p.Lys189Asn) single nucleotide variant not provided [RCV001093365] Chr20:49481914 [GRCh38]
Chr20:48098451 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001172333] Chr20:49374451 [GRCh38]
Chr20:47990988 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001033960] Chr20:49374216 [GRCh38]
Chr20:47990753 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034381] Chr20:49373836 [GRCh38]
Chr20:47990373 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034472] Chr20:49373501 [GRCh38]
Chr20:47990038 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034477] Chr20:49373669 [GRCh38]
Chr20:47990206 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001034526] Chr20:49373105 [GRCh38]
Chr20:47989642 [GRCh37]
Chr20:20q13.13
benign
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001071214] Chr20:49374031 [GRCh38]
Chr20:47990568 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001249558] Chr20:49374097 [GRCh38]
Chr20:47990634 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001249556] Chr20:49374604 [GRCh38]
Chr20:47991141 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) microsatellite Epileptic encephalopathy, early infantile, 26 [RCV001237087] Chr20:49373772..49373773 [GRCh38]
Chr20:47990309..47990310 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001207638] Chr20:49373954 [GRCh38]
Chr20:47990491 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001060788] Chr20:49482359 [GRCh38]
Chr20:48098896 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001057919] Chr20:49373707 [GRCh38]
Chr20:47990244 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001219107] Chr20:49373237 [GRCh38]
Chr20:47989774 [GRCh37]
Chr20:20q13.13
benign|uncertain significance
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001051795] Chr20:49373311 [GRCh38]
Chr20:47989848 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001217148] Chr20:49374704 [GRCh38]
Chr20:47991241 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001232315] Chr20:49374574 [GRCh38]
Chr20:47991111 [GRCh37]
Chr20:20q13.13
likely pathogenic|uncertain significance
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001033989] Chr20:49373963 [GRCh38]
Chr20:47990500 [GRCh37]
Chr20:20q13.13
likely benign
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001055628] Chr20:49373624 [GRCh38]
Chr20:47990161 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001246168] Chr20:49374114 [GRCh38]
Chr20:47990651 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001089749] Chr20:49373966 [GRCh38]
Chr20:47990503 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001063036] Chr20:49374350 [GRCh38]
Chr20:47990887 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001070486] Chr20:49373436 [GRCh38]
Chr20:47989973 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001262293] Chr20:49374323 [GRCh38]
Chr20:47990860 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001262847] Chr20:49374662 [GRCh38]
Chr20:47991199 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) single nucleotide variant Inborn genetic diseases [RCV001265994] Chr20:49374587 [GRCh38]
Chr20:47991124 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.1106G>A (p.Trp369Ter) single nucleotide variant Intellectual disability [RCV001257727] Chr20:49374454 [GRCh38]
Chr20:47990991 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe) single nucleotide variant Inborn genetic diseases [RCV001267158] Chr20:49374460 [GRCh38]
Chr20:47990997 [GRCh37]
Chr20:20q13.13
likely pathogenic
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) single nucleotide variant Neurodevelopmental abnormality [RCV001264690] Chr20:49373552 [GRCh38]
Chr20:47990089 [GRCh37]
Chr20:20q13.13
uncertain significance
NM_004975.4(KCNB1):c.978del (p.Ser327fs) deletion not provided [RCV001268087] Chr20:49374582 [GRCh38]
Chr20:47991119 [GRCh37]
Chr20:20q13.13
pathogenic
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) single nucleotide variant Epileptic encephalopathy, early infantile, 26 [RCV001262131] Chr20:49374643 [GRCh38]
Chr20:47991180 [GRCh37]
Chr20:20q13.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6231 AgrOrtholog
COSMIC KCNB1 COSMIC
Ensembl Genes ENSG00000158445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000360806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489193 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489766 UniProtKB/TrEMBL
  ENSP00000489908 UniProtKB/TrEMBL
Ensembl Transcript ENST00000371741 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000635465 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000635878 UniProtKB/TrEMBL
  ENST00000637131 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158445 GTEx
HGNC ID HGNC:6231 ENTREZGENE
Human Proteome Map KCNB1 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv2.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VG_K_chnl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3745 UniProtKB/Swiss-Prot
NCBI Gene 3745 ENTREZGENE
OMIM 600397 OMIM
  616056 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kv2channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA209 PharmGKB
PRINTS KV21CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHABCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTM8_HUMAN UniProtKB/TrEMBL
  A0A1B0GU02_HUMAN UniProtKB/TrEMBL
  KCNB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2NLD5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14193 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNB1  potassium voltage-gated channel subfamily B member 1  KCNB1  potassium channel, voltage gated Shab related subfamily B, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNB1  potassium channel, voltage gated Shab related subfamily B, member 1  KCNB1  potassium voltage-gated channel, Shab-related subfamily, member 1  Symbol and/or name change 5135510 APPROVED