KCNQ3 (potassium voltage-gated channel subfamily Q member 3) - Rat Genome Database

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Gene: KCNQ3 (potassium voltage-gated channel subfamily Q member 3) Homo sapiens
Analyze
Symbol: KCNQ3
Name: potassium voltage-gated channel subfamily Q member 3
RGD ID: 735595
HGNC Page HGNC
Description: Exhibits calmodulin binding activity and voltage-gated potassium channel activity. Involved in potassium ion transmembrane transport. Localizes to voltage-gated potassium channel complex. Implicated in autistic disorder and benign neonatal seizures.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFNC2; DKFZp686C0248; EBN2; FLJ37386; FLJ38392; KQT-like 3; KV7.3; potassium channel subunit alpha KvLQT3; potassium channel, voltage gated KQT-like subfamily Q, member 3; potassium channel, voltage-gated, subfamily Q, member 3; potassium voltage-gated channel subfamily KQT member 3; potassium voltage-gated channel, KQT-like subfamily, member 3; voltage-gated potassium channel subunit Kv7.3
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 Ensembl8132,120,859 - 132,481,095 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,120,858 - 132,481,095 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,133,108 - 133,493,342 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,210,438 - 133,562,186 (-)NCBINCBI36hg18NCBI36
Build 348133,210,437 - 133,562,186NCBI
Celera8129,316,946 - 129,668,720 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,450,644 - 128,810,822 (-)NCBIHuRef
CHM1_18133,173,913 - 133,533,807 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:1859177   PMID:8102508   PMID:9677360   PMID:9836639   PMID:9872318   PMID:10025409   PMID:10479678   PMID:10684873   PMID:10713399   PMID:10713961   PMID:10781098   PMID:10788442  
PMID:10908292   PMID:10953053   PMID:11034315   PMID:11159685   PMID:12032157   PMID:12147327   PMID:12223552   PMID:12477932   PMID:12524525   PMID:12640002   PMID:12832524   PMID:12890507  
PMID:12928862   PMID:14534157   PMID:14702039   PMID:15304482   PMID:15483133   PMID:16235065   PMID:16319223   PMID:16382104   PMID:16525039   PMID:16721610   PMID:16735477   PMID:16990515  
PMID:18089837   PMID:18166285   PMID:18249525   PMID:18425618   PMID:18625963   PMID:18676988   PMID:18786918   PMID:18790849   PMID:19464834   PMID:19913121   PMID:20379614   PMID:20437616  
PMID:20610766   PMID:20628086   PMID:21730298   PMID:21873635   PMID:21976501   PMID:21980481   PMID:22334706   PMID:22447848   PMID:23002961   PMID:23087646   PMID:23146207   PMID:23209695  
PMID:23271449   PMID:23360469   PMID:23870195   PMID:24333508   PMID:24375629   PMID:24646441   PMID:24843134   PMID:24851285   PMID:25041603   PMID:25278462   PMID:25524373   PMID:25740509  
PMID:25998125   PMID:26627826   PMID:26692086   PMID:26969140   PMID:27445338   PMID:27564677   PMID:27607834   PMID:29474891   PMID:29748663   PMID:30348901   PMID:30578330   PMID:30885609  
PMID:31177578   PMID:32580997  


Genomics

Comparative Map Data
KCNQ3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,120,859 - 132,481,095 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,120,858 - 132,481,095 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,133,108 - 133,493,342 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,210,438 - 133,562,186 (-)NCBINCBI36hg18NCBI36
Build 348133,210,437 - 133,562,186NCBI
Celera8129,316,946 - 129,668,720 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,450,644 - 128,810,822 (-)NCBIHuRef
CHM1_18133,173,913 - 133,533,807 (-)NCBICHM1_1
Kcnq3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391565,858,223 - 66,158,485 (-)NCBIGRCm39mm39
GRCm39 Ensembl1565,858,236 - 66,158,491 (-)Ensembl
GRCm381565,986,374 - 66,286,636 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1565,986,387 - 66,286,642 (-)EnsemblGRCm38mm10GRCm38
MGSCv371565,826,477 - 66,117,786 (-)NCBIGRCm37mm9NCBIm37
MGSCv361565,824,844 - 66,115,893 (-)NCBImm8
Celera1567,502,496 - 67,809,639 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1529.16NCBI
Kcnq3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2797,730,219 - 98,025,652 (-)NCBI
Rnor_6.0 Ensembl7106,717,229 - 107,009,330 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07106,714,479 - 107,009,639 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07106,662,621 - 106,956,409 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,325,185 - 103,627,045 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17103,359,425 - 103,661,275 (-)NCBI
Celera794,285,105 - 94,579,630 (-)NCBICelera
Cytogenetic Map7q34NCBI
Kcnq3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554616,797,018 - 7,119,569 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554616,793,877 - 7,119,859 (-)NCBIChiLan1.0ChiLan1.0
KCNQ3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18131,747,069 - 132,110,448 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8131,755,454 - 131,815,237 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08128,769,930 - 129,134,671 (-)NCBIMhudiblu_PPA_v0panPan3
KCNQ3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11328,765,472 - 29,062,371 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1328,773,738 - 29,062,370 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1328,738,298 - 29,035,933 (-)NCBI
ROS_Cfam_1.01329,120,132 - 29,417,368 (-)NCBI
UMICH_Zoey_3.11328,847,191 - 29,144,520 (-)NCBI
UNSW_CanFamBas_1.01328,946,895 - 29,244,508 (-)NCBI
UU_Cfam_GSD_1.01329,258,881 - 29,556,646 (-)NCBI
Kcnq3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,286,465 - 9,587,259 (+)NCBI
SpeTri2.0NW_00493647016,712,508 - 17,009,648 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNQ3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,670,176 - 8,970,342 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,669,969 - 8,978,656 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,707,508 - 9,006,805 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNQ3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18126,566,288 - 126,921,354 (-)NCBI
ChlSab1.1 Ensembl8126,566,545 - 126,622,712 (-)Ensembl
Vero_WHO_p1.0NW_02366603913,185,447 - 13,545,986 (+)NCBI
Kcnq3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,441,042 - 23,752,197 (+)NCBI

Position Markers
D8S558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,492,144 - 133,492,312UniSTSGRCh37
GRCh378133,492,157 - 133,492,308UniSTSGRCh37
Build 368133,561,326 - 133,561,494RGDNCBI36
Celera8129,667,860 - 129,668,028RGD
Celera8129,667,873 - 129,668,024UniSTS
Cytogenetic Map8q24UniSTS
HuRef8128,810,146 - 128,810,297UniSTS
HuRef8128,810,133 - 128,810,301UniSTS
Marshfield Genetic Map8145.97RGD
Genethon Genetic Map8144.8UniSTS
deCODE Assembly Map8143.14UniSTS
Stanford-G3 RH Map84144.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81510.3UniSTS
GeneMap99-G3 RH Map84234.0UniSTS
D8S1835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,184,576 - 133,184,720UniSTSGRCh37
Build 368133,253,758 - 133,253,902RGDNCBI36
Celera8129,360,268 - 129,360,414RGD
Cytogenetic Map8q24UniSTS
HuRef8128,502,074 - 128,502,220UniSTS
Marshfield Genetic Map8145.97RGD
Marshfield Genetic Map8145.97UniSTS
Genethon Genetic Map8144.8UniSTS
deCODE Assembly Map8142.83UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH47380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,166,475 - 133,166,639UniSTSGRCh37
Build 368133,235,657 - 133,235,821RGDNCBI36
Celera8129,342,171 - 129,342,335RGD
Cytogenetic Map8q24UniSTS
HuRef8128,483,983 - 128,484,147UniSTS
GeneMap99-GB4 RH Map8506.89UniSTS
NCBI RH Map81491.8UniSTS
D8S295E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,155,951 - 133,156,055UniSTSGRCh37
GRCh378133,155,901 - 133,156,002UniSTSGRCh37
GRCh378133,156,040 - 133,156,199UniSTSGRCh37
Build 368133,225,222 - 133,225,381RGDNCBI36
Celera8129,331,646 - 129,331,750UniSTS
Celera8129,331,596 - 129,331,697UniSTS
Celera8129,331,735 - 129,331,897RGD
HuRef8128,473,553 - 128,473,715UniSTS
HuRef8128,473,414 - 128,473,515UniSTS
HuRef8128,473,464 - 128,473,568UniSTS
Stanford-G3 RH Map84097.0UniSTS
GeneMap99-G3 RH Map84187.0UniSTS
RH102545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,392,187 - 133,392,282UniSTSGRCh37
Build 368133,461,369 - 133,461,464RGDNCBI36
Celera8129,567,907 - 129,568,002RGD
Cytogenetic Map8q24UniSTS
HuRef8128,710,272 - 128,710,367UniSTS
GeneMap99-GB4 RH Map8505.82UniSTS
G62778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,208,372 - 133,208,679UniSTSGRCh37
Build 368133,277,554 - 133,277,861RGDNCBI36
Celera8129,384,065 - 129,384,372RGD
Cytogenetic Map8q24UniSTS
HuRef8128,525,873 - 128,526,180UniSTS
TNG Radiation Hybrid Map864776.0UniSTS
D8S1431E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,134,236 - 133,134,316UniSTSGRCh37
Build 368133,203,418 - 133,203,498RGDNCBI36
Celera8129,309,926 - 129,310,006RGD
Cytogenetic Map8q24UniSTS
HuRef8128,451,775 - 128,451,855UniSTS
SHGC-582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,156,013 - 133,156,199UniSTSGRCh37
Build 368133,225,195 - 133,225,381RGDNCBI36
Celera8129,331,708 - 129,331,897RGD
Cytogenetic Map8q24UniSTS
HuRef8128,473,526 - 128,473,715UniSTS
TNG Radiation Hybrid Map864776.0UniSTS
SHGC-150710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,492,014 - 133,492,306UniSTSGRCh37
Build 368133,561,196 - 133,561,488RGDNCBI36
Celera8129,667,730 - 129,668,022RGD
Cytogenetic Map8q24UniSTS
HuRef8128,810,003 - 128,810,295UniSTS
SHGC-147728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,435,505 - 133,435,854UniSTSGRCh37
Build 368133,504,687 - 133,505,036RGDNCBI36
Celera8129,611,229 - 129,611,578RGD
Cytogenetic Map8q24UniSTS
HuRef8128,753,623 - 128,753,972UniSTS
RH47376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,136,568 - 133,136,696UniSTSGRCh37
Build 368133,205,750 - 133,205,878RGDNCBI36
Celera8129,312,258 - 129,312,386RGD
Cytogenetic Map8q24UniSTS
HuRef8128,454,106 - 128,454,234UniSTS
GeneMap99-GB4 RH Map8506.12UniSTS
SHGC-154560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,434,745 - 133,435,018UniSTSGRCh37
Build 368133,503,927 - 133,504,200RGDNCBI36
Celera8129,610,469 - 129,610,742RGD
Cytogenetic Map8q24UniSTS
HuRef8128,752,863 - 128,753,136UniSTS
KCNQ3_350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,141,255 - 133,142,081UniSTSGRCh37
Build 368133,210,437 - 133,211,263RGDNCBI36
Celera8129,316,945 - 129,317,771RGD
HuRef8128,458,797 - 128,459,623UniSTS
AB047879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,219,440 - 133,219,560UniSTSGRCh37
Build 368133,288,622 - 133,288,742RGDNCBI36
Celera8129,395,133 - 129,395,253RGD
HuRef8128,536,939 - 128,537,059UniSTS
STS-AA033801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,235,339 - 133,235,561UniSTSGRCh37
Build 368133,304,521 - 133,304,743RGDNCBI36
Celera8129,411,033 - 129,411,255RGD
Cytogenetic Map8q24UniSTS
HuRef8128,552,774 - 128,552,996UniSTS
GeneMap99-GB4 RH Map8510.43UniSTS
NCBI RH Map81504.1UniSTS
WI-14883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,139,203 - 133,139,352UniSTSGRCh37
Build 368133,208,385 - 133,208,534RGDNCBI36
Celera8129,314,893 - 129,315,042RGD
Cytogenetic Map8q24UniSTS
HuRef8128,456,745 - 128,456,894UniSTS
GeneMap99-GB4 RH Map8510.02UniSTS
Whitehead-RH Map8680.6UniSTS
NCBI RH Map81514.2UniSTS
D8S295E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
D8S295E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
Stanford-G3 RH Map84097.0UniSTS
GeneMap99-G3 RH Map84187.0UniSTS
D8S558  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
Marshfield Genetic Map8145.97UniSTS
Genethon Genetic Map8144.8UniSTS
deCODE Assembly Map8143.14UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4074
Count of miRNA genes:1229
Interacting mature miRNAs:1567
Transcripts:ENST00000388996, ENST00000519445, ENST00000519589, ENST00000521134
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 3 3 19 1 4 2 10 2 1183 27 83 12
Low 1012 1216 953 124 403 23 2586 387 2377 224 544 1198 104 1 1015 1498
Below cutoff 1320 1665 640 387 886 328 1713 1776 141 174 826 248 62 177 1287 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV728013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS327666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000388996   ⟹   ENSP00000373648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,120,861 - 132,481,095 (-)Ensembl
RefSeq Acc Id: ENST00000519445   ⟹   ENSP00000428790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,129,090 - 132,480,578 (-)Ensembl
RefSeq Acc Id: ENST00000519589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,129,145 - 132,480,310 (-)Ensembl
RefSeq Acc Id: ENST00000521134   ⟹   ENSP00000429799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,128,980 - 132,447,262 (-)Ensembl
RefSeq Acc Id: ENST00000621976   ⟹   ENSP00000482510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,120,859 - 132,187,213 (-)Ensembl
RefSeq Acc Id: ENST00000638588   ⟹   ENSP00000491940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,129,406 - 132,321,545 (-)Ensembl
RefSeq Acc Id: ENST00000639358   ⟹   ENSP00000492691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,170,397 - 132,480,309 (-)Ensembl
RefSeq Acc Id: ENST00000639496   ⟹   ENSP00000491165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,126,541 - 132,321,522 (-)Ensembl
RefSeq Acc Id: NM_001204824   ⟹   NP_001191753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,861 - 132,447,262 (-)NCBI
GRCh378133,133,105 - 133,493,004 (-)NCBI
HuRef8128,450,644 - 128,810,822 (-)ENTREZGENE
CHM1_18133,173,913 - 133,500,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004519   ⟹   NP_004510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,861 - 132,481,095 (-)NCBI
GRCh378133,133,105 - 133,493,004 (-)ENTREZGENE
GRCh378133,133,105 - 133,493,004 (-)NCBI
Build 368133,210,438 - 133,562,186 (-)NCBI Archive
HuRef8128,450,644 - 128,810,822 (-)ENTREZGENE
CHM1_18133,173,913 - 133,533,807 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250914   ⟹   XP_005250971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,861 - 132,180,322 (-)NCBI
GRCh378133,133,105 - 133,493,004 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716555   ⟹   XP_006716618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,861 - 132,184,335 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517026   ⟹   XP_011515328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,858 - 132,433,607 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013400   ⟹   XP_016868889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,120,858 - 132,331,561 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004510   ⟸   NM_004519
- Peptide Label: isoform 1
- UniProtKB: O43525 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191753   ⟸   NM_001204824
- Peptide Label: isoform 2 precursor
- UniProtKB: O43525 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250971   ⟸   XM_005250914
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006716618   ⟸   XM_006716555
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515328   ⟸   XM_011517026
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016868889   ⟸   XM_017013400
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000482510   ⟸   ENST00000621976
RefSeq Acc Id: ENSP00000428790   ⟸   ENST00000519445
RefSeq Acc Id: ENSP00000491940   ⟸   ENST00000638588
RefSeq Acc Id: ENSP00000373648   ⟸   ENST00000388996
RefSeq Acc Id: ENSP00000491165   ⟸   ENST00000639496
RefSeq Acc Id: ENSP00000492691   ⟸   ENST00000639358
RefSeq Acc Id: ENSP00000429799   ⟸   ENST00000521134
Protein Domains
Ion_trans   KCNQ_channel

Promoters
RGD ID:7214201
Promoter ID:EPDNEW_H12845
Type:initiation region
Name:KCNQ3_1
Description:potassium voltage-gated channel subfamily Q member 3
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
GRCh388132,481,089 - 132,481,149EPDNEW
RGD ID:6806814
Promoter ID:HG_KWN:62121
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000268621,   UC010MDT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,561,606 - 133,562,707 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile) single nucleotide variant Benign familial neonatal seizures [RCV001065210]|not provided [RCV000523501] Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) single nucleotide variant Benign familial neonatal seizures 2 [RCV001329910]|Benign familial neonatal seizures [RCV000544083] Chr8:132170370 [GRCh38]
Chr8:133182617 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr) single nucleotide variant Benign familial neonatal seizures [RCV001342298]|not specified [RCV000516474] Chr8:132140092 [GRCh38]
Chr8:133152339 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2298G>C (p.Leu766=) single nucleotide variant Benign familial neonatal seizures [RCV000555243] Chr8:132129583 [GRCh38]
Chr8:133141830 [GRCh37]
Chr8:8q24.22
likely benign
KCNQ3, TRP309ARG single nucleotide variant Benign familial neonatal seizures 2 [RCV000088662] Chr8:8q24 pathogenic
KCNQ3, ARG330CYS single nucleotide variant Benign familial neonatal seizures 2 [RCV000088663] Chr8:8q24 pathogenic
NM_004519.4(KCNQ3):c.933+12C>T single nucleotide variant not specified [RCV000603240] Chr8:132175441 [GRCh38]
Chr8:133187688 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.1694A>G (p.Gln565Arg) single nucleotide variant not provided [RCV000522724] Chr8:132137891 [GRCh38]
Chr8:133150138 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2038T>G (p.Leu680Val) single nucleotide variant Benign familial neonatal seizures [RCV000529707] Chr8:132129843 [GRCh38]
Chr8:133142090 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) single nucleotide variant Benign Neonatal Epilepsy [RCV000326256]|Benign familial neonatal seizures 2 [RCV000678046]|Benign familial neonatal seizures [RCV000266513]|Seizures [RCV000715314]|not specified [RCV000117352] Chr8:132163489 [GRCh38]
Chr8:133175736 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) single nucleotide variant Benign familial neonatal seizures 2 [RCV000678047]|Benign familial neonatal seizures [RCV001081148]|not provided [RCV000723919] Chr8:132141191 [GRCh38]
Chr8:133153438 [GRCh37]
Chr8:8q24.22
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) single nucleotide variant Benign Neonatal Epilepsy [RCV000384756]|Benign familial neonatal seizures 2 [RCV000661926]|Benign familial neonatal seizures [RCV000290815]|Intellectual disability [RCV001257744]|Seizures [RCV000718726]|not specified [RCV000081107] Chr8:132134369 [GRCh38]
Chr8:133146616 [GRCh37]
Chr8:8q24.22
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) single nucleotide variant Benign Neonatal Epilepsy [RCV000327599]|Benign familial neonatal seizures 2 [RCV000678048]|Benign familial neonatal seizures [RCV000368463]|Seizures [RCV000717890]|not provided [RCV000723967]|not specified [RCV000187958] Chr8:132129419 [GRCh38]
Chr8:133141666 [GRCh37]
Chr8:8q24.22
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) single nucleotide variant Benign familial neonatal seizures 2 [RCV000678049] Chr8:132175491 [GRCh38]
Chr8:133187738 [GRCh37]
Chr8:8q24.22
pathogenic
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) single nucleotide variant Benign familial neonatal seizures 2 [RCV000678050] Chr8:132175472 [GRCh38]
Chr8:133187719 [GRCh37]
Chr8:8q24.22
pathogenic
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) single nucleotide variant Benign familial neonatal seizures 2 [RCV000020601] Chr8:132175461 [GRCh38]
Chr8:133187708 [GRCh37]
Chr8:8q24.22
pathogenic
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) single nucleotide variant Benign familial neonatal seizures 2 [RCV000020602]|Benign familial neonatal seizures [RCV000462450] Chr8:132174295 [GRCh38]
Chr8:133186542 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) single nucleotide variant Benign familial neonatal seizures 2 [RCV000007816] Chr8:132175457 [GRCh38]
Chr8:133187704 [GRCh37]
Chr8:8q24.22
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_004519.4(KCNQ3):c.2381C>T (p.Ser794Leu) single nucleotide variant Seizures [RCV000720204] Chr8:132129500 [GRCh38]
Chr8:133141747 [GRCh37]
Chr8:133210929 [NCBI36]
Chr8:8q24.22
uncertain significance|not provided
NM_004519.3(KCNQ3):c.453C>T (p.Val151=) single nucleotide variant Malignant melanoma [RCV000068159] Chr8:132186115 [GRCh38]
Chr8:133198362 [GRCh37]
Chr8:133267544 [NCBI36]
Chr8:8q24.22
not provided
NM_004519.4(KCNQ3):c.1207G>A (p.Glu403Lys) single nucleotide variant Benign familial neonatal seizures [RCV001235684] Chr8:132170362 [GRCh38]
Chr8:133182609 [GRCh37]
Chr8:133251791 [NCBI36]
Chr8:8q24.22
uncertain significance|not provided
NM_004519.3(KCNQ3):c.1263-8430C>T single nucleotide variant Lung cancer [RCV000107052] Chr8:132149761 [GRCh38]
Chr8:133162008 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.3(KCNQ3):c.777+2264C>G single nucleotide variant Lung cancer [RCV000107053] Chr8:132177893 [GRCh38]
Chr8:133190140 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.3(KCNQ3):c.386+101470A>G single nucleotide variant Lung cancer [RCV000107055] Chr8:132378677 [GRCh38]
Chr8:133390924 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) single nucleotide variant Benign familial neonatal seizures [RCV000466449]|Seizures [RCV000716468]|not specified [RCV000117350] Chr8:132172679 [GRCh38]
Chr8:133184926 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000272547]|Benign familial neonatal seizures [RCV000380846]|Seizures [RCV000715258]|not specified [RCV000117351] Chr8:132172667 [GRCh38]
Chr8:133184914 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000265351]|Benign familial neonatal seizures [RCV000355353]|Seizures [RCV000715665]|not specified [RCV000117353] Chr8:132140093 [GRCh38]
Chr8:133152340 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000388063]|Benign familial neonatal seizures [RCV000279747]|Seizures [RCV000715221]|not specified [RCV000117354] Chr8:132180274 [GRCh38]
Chr8:133192521 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000292510]|Benign familial neonatal seizures [RCV000352199]|Seizures [RCV000715212]|not specified [RCV000117355] Chr8:132180202 [GRCh38]
Chr8:133192449 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.778-17A>C single nucleotide variant not specified [RCV000126481] Chr8:132175625 [GRCh38]
Chr8:133187872 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000386745]|Benign familial neonatal seizures [RCV000327691]|Seizures [RCV000718941]|not specified [RCV000126482] Chr8:132174335 [GRCh38]
Chr8:133186582 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) single nucleotide variant not provided [RCV000724468]|not specified [RCV000186635] Chr8:132174329 [GRCh38]
Chr8:133186576 [GRCh37]
Chr8:8q24.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.1236-16C>T single nucleotide variant not specified [RCV000126485] Chr8:132163510 [GRCh38]
Chr8:133175757 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.1568+12A>G single nucleotide variant not provided [RCV000514782]|not specified [RCV000126488] Chr8:132140064 [GRCh38]
Chr8:133152311 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.1626T>C (p.Asp542=) single nucleotide variant not specified [RCV000126489] Chr8:132137959 [GRCh38]
Chr8:133150206 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.1701-17C>T single nucleotide variant not specified [RCV000126490] Chr8:132134405 [GRCh38]
Chr8:133146652 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) single nucleotide variant Benign familial neonatal seizures [RCV000457889]|Seizures [RCV000720041]|not specified [RCV000174900] Chr8:132129964 [GRCh38]
Chr8:133142211 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) single nucleotide variant not provided [RCV000727123]|not specified [RCV000126492] Chr8:132129946 [GRCh38]
Chr8:133142193 [GRCh37]
Chr8:8q24.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.1947G>A (p.Arg649=) single nucleotide variant Benign familial neonatal seizures [RCV000868323]|not specified [RCV000126493] Chr8:132129934 [GRCh38]
Chr8:133142181 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=) single nucleotide variant Benign familial neonatal seizures 2 [RCV001160873]|Benign familial neonatal seizures [RCV000647900]|not specified [RCV000126494] Chr8:132129784 [GRCh38]
Chr8:133142031 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) single nucleotide variant Benign familial neonatal seizures 2 [RCV001159505]|Benign familial neonatal seizures [RCV000476576]|Seizures [RCV000716728]|not specified [RCV000126495] Chr8:132129713 [GRCh38]
Chr8:133141960 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) single nucleotide variant Benign Neonatal Epilepsy [RCV000319682]|Benign familial neonatal seizures 2 [RCV000625015]|Benign familial neonatal seizures [RCV000374391]|Seizures [RCV000717034]|not provided [RCV000712133]|not specified [RCV000126496] Chr8:132129575 [GRCh38]
Chr8:133141822 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000333674]|Benign familial neonatal seizures [RCV000273787]|not provided [RCV000860790]|not specified [RCV000126497] Chr8:132129532 [GRCh38]
Chr8:133141779 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.240G>A (p.Arg80=) single nucleotide variant not specified [RCV000126498] Chr8:132480293 [GRCh38]
Chr8:133492540 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_004519.4(KCNQ3):c.127G>A (p.Val43Met) single nucleotide variant not provided [RCV000173345] Chr8:132480406 [GRCh38]
Chr8:133492653 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2026A>G (p.Arg676Gly) single nucleotide variant Benign familial neonatal seizures [RCV001303091] Chr8:132129855 [GRCh38]
Chr8:133142102 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile) single nucleotide variant Malignant tumor of prostate [RCV000149105] Chr8:132141248 [GRCh38]
Chr8:133153495 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) single nucleotide variant Benign familial neonatal seizures 2 [RCV000300549]|Benign familial neonatal seizures [RCV000404166]|not provided [RCV000174103] Chr8:132140080 [GRCh38]
Chr8:133152327 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) single nucleotide variant Benign familial neonatal seizures 2 [RCV000515326]|Benign familial neonatal seizures [RCV001087307]|Seizures [RCV000716677]|not provided [RCV000724075]|not specified [RCV000187987] Chr8:132129887 [GRCh38]
Chr8:133142134 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.2391C>T (p.His797=) single nucleotide variant not provided [RCV000174899] Chr8:132129490 [GRCh38]
Chr8:133141737 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 copy number gain See cases [RCV000133767] Chr8:131770098..132203964 [GRCh38]
Chr8:132782345..133216211 [GRCh37]
Chr8:132851527..133285393 [NCBI36]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=) single nucleotide variant Benign familial neonatal seizures [RCV000874103]|not specified [RCV000192767] Chr8:132129886 [GRCh38]
Chr8:133142133 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.2492G>A (p.Arg831Gln) single nucleotide variant Benign familial neonatal seizures 2 [RCV001164437]|Benign familial neonatal seizures [RCV000647891]|not specified [RCV000194011] Chr8:132129389 [GRCh38]
Chr8:133141636 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) duplication Seizures [RCV000824971]|not provided [RCV000187983] Chr8:132137985..132137986 [GRCh38]
Chr8:133150232..133150233 [GRCh37]
Chr8:8q24.22
pathogenic|uncertain significance
NM_004519.4(KCNQ3):c.36_60del (p.Gly13fs) deletion not specified [RCV000188005] Chr8:132480473..132480497 [GRCh38]
Chr8:133492720..133492744 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) deletion Benign familial neonatal seizures [RCV001059865]|Seizures [RCV000720594]|not specified [RCV000188006] Chr8:132480460..132480477 [GRCh38]
Chr8:133492707..133492724 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.-13G>C single nucleotide variant not specified [RCV000187960] Chr8:132480545 [GRCh38]
Chr8:133492792 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) single nucleotide variant Benign familial neonatal seizures [RCV000806133]|not specified [RCV000187961] Chr8:132480498 [GRCh38]
Chr8:133492745 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.330G>C (p.Leu110Phe) single nucleotide variant not provided [RCV000187963] Chr8:132480203 [GRCh38]
Chr8:133492450 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) single nucleotide variant not provided [RCV000187965] Chr8:132184276 [GRCh38]
Chr8:133196523 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) single nucleotide variant Benign familial neonatal seizures [RCV001225359]|not provided [RCV000187966] Chr8:132180255 [GRCh38]
Chr8:133192502 [GRCh37]
Chr8:8q24.22
pathogenic
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) single nucleotide variant Autistic behavior [RCV001263326]|Benign familial neonatal seizures 2 [RCV000210407]|Benign familial neonatal seizures [RCV001042557]|Intellectual disability [RCV001249311]|Intellectual disability [RCV001257743]|Seizures, benign familial infantile, 5 [RCV000824975]|Severe neurodevelopmental delay [RCV000824686]|not provided [RCV000187968] Chr8:132180246 [GRCh38]
Chr8:133192493 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_004519.4(KCNQ3):c.797A>G (p.Tyr266Cys) single nucleotide variant not provided [RCV000187969] Chr8:132175589 [GRCh38]
Chr8:133187836 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) single nucleotide variant not provided [RCV000187971] Chr8:132175469 [GRCh38]
Chr8:133187716 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic
NM_004519.4(KCNQ3):c.1043C>T (p.Ala348Val) single nucleotide variant Benign familial neonatal seizures [RCV001347573]|not provided [RCV000187972] Chr8:132174240 [GRCh38]
Chr8:133186487 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1060G>T (p.Gly354Trp) single nucleotide variant not provided [RCV000187973] Chr8:132172678 [GRCh38]
Chr8:133184925 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1591A>G (p.Lys531Glu) single nucleotide variant not provided [RCV000187979] Chr8:132137994 [GRCh38]
Chr8:133150241 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2194G>A (p.Ala732Thr) single nucleotide variant not provided [RCV000187993] Chr8:132129687 [GRCh38]
Chr8:133141934 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.3(KCNQ3):c.13G>A (p.Ala5Thr) single nucleotide variant not specified [RCV000188002] Chr8:132480520 [GRCh38]
Chr8:133492767 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1715dup (p.Thr573fs) duplication not provided [RCV000188004] Chr8:132134373..132134374 [GRCh38]
Chr8:133146620..133146621 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.63_71dup (p.Gly22_Gly24dup) duplication Benign familial neonatal seizures [RCV001061835]|not specified [RCV000188007] Chr8:132480461..132480462 [GRCh38]
Chr8:133492708..133492709 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) single nucleotide variant Benign familial neonatal seizures [RCV000476683]|Intellectual disability [RCV001252270]|not specified [RCV000187956] Chr8:132141203 [GRCh38]
Chr8:133153450 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.1568+14G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV001164533]|not specified [RCV000187957] Chr8:132140062 [GRCh38]
Chr8:133152309 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) single nucleotide variant Benign familial neonatal seizures [RCV000861903]|Seizures [RCV000718275]|not specified [RCV000187959] Chr8:132129390 [GRCh38]
Chr8:133141637 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) single nucleotide variant Benign familial neonatal seizures [RCV000647892]|Seizures [RCV000720229]|not specified [RCV000187962] Chr8:132480308 [GRCh38]
Chr8:133492555 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.477+5G>A single nucleotide variant not provided [RCV000187964] Chr8:132186086 [GRCh38]
Chr8:133198333 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1077G>A (p.Val359=) single nucleotide variant Benign familial neonatal seizures [RCV001078569]|not provided [RCV000187967] Chr8:132172661 [GRCh38]
Chr8:133184908 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.856G>A (p.Val286Ile) single nucleotide variant Benign familial neonatal seizures [RCV000647889]|not provided [RCV000187970] Chr8:132175530 [GRCh38]
Chr8:133187777 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) single nucleotide variant Benign familial neonatal seizures 2 [RCV001159605]|Benign familial neonatal seizures [RCV000647893]|Seizures [RCV000720908]|not specified [RCV000187974] Chr8:132170353 [GRCh38]
Chr8:133182600 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) single nucleotide variant Benign familial neonatal seizures 2 [RCV000765990]|Benign familial neonatal seizures [RCV000477245]|not provided [RCV000725748] Chr8:132170343 [GRCh38]
Chr8:133182590 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1421C>T (p.Thr474Met) single nucleotide variant Benign familial neonatal seizures 2 [RCV001159603]|Benign familial neonatal seizures [RCV001069993]|not provided [RCV000187976] Chr8:132141173 [GRCh38]
Chr8:133153420 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_004519.4(KCNQ3):c.1507G>A (p.Gly503Arg) single nucleotide variant Benign familial neonatal seizures 2 [RCV000301786]|Benign familial neonatal seizures [RCV000360958]|not provided [RCV000187977] Chr8:132140137 [GRCh38]
Chr8:133152384 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.1538C>T (p.Pro513Leu) single nucleotide variant not provided [RCV000187978] Chr8:132140106 [GRCh38]
Chr8:133152353 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) single nucleotide variant Benign familial neonatal seizures 2 [RCV001162487]|not provided [RCV000712132] Chr8:132134380 [GRCh38]
Chr8:133146627 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) single nucleotide variant Benign familial neonatal seizures [RCV001211061]|Inborn genetic diseases [RCV000622336]|not provided [RCV000187981] Chr8:132134369 [GRCh38]
Chr8:133146616 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1844A>G (p.Asp615Gly) single nucleotide variant Benign familial neonatal seizures [RCV001040648] Chr8:132132220 [GRCh38]
Chr8:133144467 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1850G>C (p.Ser617Thr) single nucleotide variant not provided [RCV000187984] Chr8:132132214 [GRCh38]
Chr8:133144461 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe) single nucleotide variant not provided [RCV000187985] Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) single nucleotide variant Benign Neonatal Epilepsy [RCV000378150]|Benign familial neonatal seizures 2 [RCV001095231]|Benign familial neonatal seizures [RCV000283809]|Seizures [RCV000718625]|not specified [RCV000187986] Chr8:132129923 [GRCh38]
Chr8:133142170 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.2005G>A (p.Ala669Thr) single nucleotide variant Benign familial neonatal seizures [RCV000551620] Chr8:132129876 [GRCh38]
Chr8:133142123 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) single nucleotide variant Benign familial neonatal seizures 2 [RCV000370281]|Benign familial neonatal seizures [RCV000275862]|not specified [RCV000187989] Chr8:132129810 [GRCh38]
Chr8:133142057 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His) single nucleotide variant Benign familial neonatal seizures [RCV001082003]|not provided [RCV000187990] Chr8:132129753 [GRCh38]
Chr8:133142000 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg) single nucleotide variant Benign familial neonatal seizures [RCV001232845]|not provided [RCV000416041] Chr8:132129737 [GRCh38]
Chr8:133141984 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His) single nucleotide variant Benign familial neonatal seizures [RCV000797329]|not provided [RCV000187992] Chr8:132129735 [GRCh38]
Chr8:133141982 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) single nucleotide variant Benign familial neonatal seizures 2 [RCV000407786]|Benign familial neonatal seizures [RCV000285383]|Rolandic epilepsy [RCV000656017]|Seizures [RCV000720766]|not provided [RCV000858271]|not specified [RCV000187994] Chr8:132129618 [GRCh38]
Chr8:133141865 [GRCh37]
Chr8:8q24.22
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.2318G>A (p.Arg773Gln) single nucleotide variant Benign familial neonatal seizures [RCV000792890]|not provided [RCV000187995] Chr8:132129563 [GRCh38]
Chr8:133141810 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) single nucleotide variant Benign familial neonatal seizures 2 [RCV000388137]|Benign familial neonatal seizures [RCV000278630]|Seizures [RCV000720688]|not provided [RCV000725514]|not specified [RCV000187996] Chr8:132129551 [GRCh38]
Chr8:133141798 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.3(KCNQ3):c.2339G>A (p.Arg780His) single nucleotide variant not provided [RCV000187997] Chr8:132129542 [GRCh38]
Chr8:133141789 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_004519.4(KCNQ3):c.2351G>A (p.Arg784Gln) single nucleotide variant not provided [RCV000187998] Chr8:132129530 [GRCh38]
Chr8:133141777 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_004519.4(KCNQ3):c.2383G>A (p.Val795Ile) single nucleotide variant Benign familial neonatal seizures [RCV000532568]|not provided [RCV000187999] Chr8:132129498 [GRCh38]
Chr8:133141745 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr) single nucleotide variant Benign familial neonatal seizures [RCV000647887]|not provided [RCV000188000] Chr8:132129438 [GRCh38]
Chr8:133141685 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) single nucleotide variant Benign familial neonatal seizures 2 [RCV000765987]|Benign familial neonatal seizures [RCV000799369]|not provided [RCV000188001] Chr8:132129267 [GRCh38]
Chr8:133141514 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.3(KCNQ3):c.98C>G (p.Ala33Gly) single nucleotide variant not specified [RCV000188003] Chr8:132480435 [GRCh38]
Chr8:133492682 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.562C>T (p.Arg188Trp) single nucleotide variant not provided [RCV000188008] Chr8:132184283 [GRCh38]
Chr8:133196530 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) single nucleotide variant Benign familial neonatal seizures 2 [RCV000765988]|Benign familial neonatal seizures [RCV000471330]|Rolandic epilepsy [RCV000656018]|not provided [RCV000767106]|not specified [RCV000188010] Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22
pathogenic|uncertain significance
NM_004519.4(KCNQ3):c.1548G>A (p.Lys516=) single nucleotide variant Benign familial neonatal seizures [RCV000547782] Chr8:132140096 [GRCh38]
Chr8:133152343 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) single nucleotide variant Benign Neonatal Epilepsy [RCV000402698]|Benign familial neonatal seizures 2 [RCV001095194]|Benign familial neonatal seizures [RCV000231115]|not specified [RCV000602735] Chr8:132129802 [GRCh38]
Chr8:133142049 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) indel Benign familial neonatal seizures 2 [RCV000765989]|not specified [RCV000519627] Chr8:132163480..132163481 [GRCh38]
Chr8:133175727..133175728 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.386+15G>T single nucleotide variant not specified [RCV000606363] Chr8:132480132 [GRCh38]
Chr8:133492379 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.1799G>A (p.Arg600Lys) single nucleotide variant Benign familial neonatal seizures [RCV000547984] Chr8:132134290 [GRCh38]
Chr8:133146537 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7689A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000270279]|Benign familial neonatal seizures [RCV000327750] Chr8:132121573 [GRCh38]
Chr8:133133820 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*5761C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000277922]|Benign familial neonatal seizures 2 [RCV000363209] Chr8:132123501 [GRCh38]
Chr8:133135748 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7075A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000352720]|Benign familial neonatal seizures 2 [RCV000405641] Chr8:132122187 [GRCh38]
Chr8:133134434 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3261C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000267750]|Benign familial neonatal seizures [RCV000360632] Chr8:132126001 [GRCh38]
Chr8:133138248 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*5932A>C single nucleotide variant Benign Neonatal Epilepsy [RCV000301653]|Benign familial neonatal seizures 2 [RCV000347178] Chr8:132123330 [GRCh38]
Chr8:133135577 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*426C>G single nucleotide variant Benign Neonatal Epilepsy [RCV000301583]|Benign familial neonatal seizures 2 [RCV000361031] Chr8:132128836 [GRCh38]
Chr8:133141083 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*4316del deletion Benign Neonatal Epilepsy [RCV000301736]|Benign familial neonatal seizures [RCV000358850] Chr8:132124946 [GRCh38]
Chr8:133137193 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*1697C>G single nucleotide variant Benign Neonatal Epilepsy [RCV000343865]|Benign familial neonatal seizures 2 [RCV000310079] Chr8:132127565 [GRCh38]
Chr8:133139812 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=) single nucleotide variant Benign Neonatal Epilepsy [RCV000344181]|Benign familial neonatal seizures 2 [RCV000289759] Chr8:132134352 [GRCh38]
Chr8:133146599 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*3591T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000344098]|Benign familial neonatal seizures 2 [RCV000291521] Chr8:132125671 [GRCh38]
Chr8:133137918 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) single nucleotide variant Benign Neonatal Epilepsy [RCV000345087]|Benign familial neonatal seizures 2 [RCV000407791] Chr8:132129619 [GRCh38]
Chr8:133141866 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3731G>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000368114]|Benign familial neonatal seizures [RCV000261742] Chr8:132125531 [GRCh38]
Chr8:133137778 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*1159G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000285330]|Benign familial neonatal seizures [RCV000345022] Chr8:132128103 [GRCh38]
Chr8:133140350 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*2475C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000303311]|Benign familial neonatal seizures [RCV000406092] Chr8:132126787 [GRCh38]
Chr8:133139034 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*4982A>T single nucleotide variant Benign Neonatal Epilepsy [RCV000323026]|Benign familial neonatal seizures 2 [RCV000267950] Chr8:132124280 [GRCh38]
Chr8:133136527 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*1582C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000370672]|Benign familial neonatal seizures [RCV000273847] Chr8:132127680 [GRCh38]
Chr8:133139927 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*5578A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000316329]|Benign familial neonatal seizures [RCV000380186] Chr8:132123684 [GRCh38]
Chr8:133135931 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6956A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000354805]|Benign familial neonatal seizures 2 [RCV000259863] Chr8:132122306 [GRCh38]
Chr8:133134553 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.-54C>G single nucleotide variant Benign Neonatal Epilepsy [RCV000269051]|Benign familial neonatal seizures 2 [RCV000361341] Chr8:132480586 [GRCh38]
Chr8:133492833 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*6267T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000269346]|Benign familial neonatal seizures [RCV000333811] Chr8:132122995 [GRCh38]
Chr8:133135242 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*4243A>T single nucleotide variant Benign Neonatal Epilepsy [RCV000269907]|Benign familial neonatal seizures 2 [RCV000362145] Chr8:132125019 [GRCh38]
Chr8:133137266 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7214G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000323462]|Benign familial neonatal seizures 2 [RCV000266068] Chr8:132122048 [GRCh38]
Chr8:133134295 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6874C>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000324405]|Benign familial neonatal seizures [RCV000360374] Chr8:132122388 [GRCh38]
Chr8:133134635 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7119C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000347079]|Benign familial neonatal seizures [RCV000282775] Chr8:132122143 [GRCh38]
Chr8:133134390 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*2137C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000371607]|Benign familial neonatal seizures 2 [RCV000319204] Chr8:132127125 [GRCh38]
Chr8:133139372 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3701G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000371535]|Benign familial neonatal seizures [RCV000319159] Chr8:132125561 [GRCh38]
Chr8:133137808 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6174A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000372329]|Benign familial neonatal seizures [RCV000287179] Chr8:132123088 [GRCh38]
Chr8:133135335 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4817G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000325334]|Benign familial neonatal seizures [RCV000289098] Chr8:132124445 [GRCh38]
Chr8:133136692 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3303C>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000348919]|Benign familial neonatal seizures [RCV000406338] Chr8:132125959 [GRCh38]
Chr8:133138206 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6351A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000402978]|Benign familial neonatal seizures [RCV000304422] Chr8:132122911 [GRCh38]
Chr8:133135158 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7095T>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000288577]|Benign familial neonatal seizures [RCV000403603] Chr8:132122167 [GRCh38]
Chr8:133134414 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*6632T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000326403]|Benign familial neonatal seizures [RCV000380982] Chr8:132122630 [GRCh38]
Chr8:133134877 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7131G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000374779]|Benign familial neonatal seizures [RCV000317805] Chr8:132122131 [GRCh38]
Chr8:133134378 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*6460C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000404866]|Benign familial neonatal seizures 2 [RCV000337810] Chr8:132122802 [GRCh38]
Chr8:133135049 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-85C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000272371]|Benign familial neonatal seizures [RCV000329845] Chr8:132480617 [GRCh38]
Chr8:133492864 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*396A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000272472]|Benign familial neonatal seizures [RCV000362474] Chr8:132128866 [GRCh38]
Chr8:133141113 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*5762G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000307452]|Benign familial neonatal seizures [RCV000402471] Chr8:132123500 [GRCh38]
Chr8:133135747 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.-65C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000307788]|Benign familial neonatal seizures 2 [RCV000364600] Chr8:132480597 [GRCh38]
Chr8:133492844 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4949G>T single nucleotide variant Benign Neonatal Epilepsy [RCV000328695]|Benign familial neonatal seizures 2 [RCV000383314] Chr8:132124313 [GRCh38]
Chr8:133136560 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.1700+3G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000350442]|Benign familial neonatal seizures [RCV000391656]|Seizures [RCV000716501]|not provided [RCV000514671] Chr8:132137882 [GRCh38]
Chr8:133150129 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004519.4(KCNQ3):c.*5391C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000350893]|Benign familial neonatal seizures [RCV000295962] Chr8:132123871 [GRCh38]
Chr8:133136118 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.-142G>T single nucleotide variant Benign Neonatal Epilepsy [RCV000377454]|Benign familial neonatal seizures 2 [RCV000320450]|not provided [RCV000829747] Chr8:132480674 [GRCh38]
Chr8:133492921 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*6812A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000290604]|Benign familial neonatal seizures 2 [RCV000384866] Chr8:132122450 [GRCh38]
Chr8:133134697 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3823G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000308231]|Benign familial neonatal seizures 2 [RCV000369941] Chr8:132125439 [GRCh38]
Chr8:133137686 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*7221C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000329099]|Benign familial neonatal seizures [RCV000358302] Chr8:132122041 [GRCh38]
Chr8:133134288 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*828T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000351841]|Benign familial neonatal seizures 2 [RCV000310989] Chr8:132128434 [GRCh38]
Chr8:133140681 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*7506C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000340625]|Benign familial neonatal seizures [RCV000378860] Chr8:132121756 [GRCh38]
Chr8:133134003 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*5482A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000291742]|Benign familial neonatal seizures 2 [RCV000376850] Chr8:132123780 [GRCh38]
Chr8:133136027 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3957A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000309221]|Benign familial neonatal seizures 2 [RCV000405316] Chr8:132125305 [GRCh38]
Chr8:133137552 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4258T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000309873]|Benign familial neonatal seizures 2 [RCV000271074] Chr8:132125004 [GRCh38]
Chr8:133137251 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000353890]|Benign familial neonatal seizures [RCV000316948] Chr8:132129886 [GRCh38]
Chr8:133142133 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*1383C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000379809]|Benign familial neonatal seizures 2 [RCV000320570] Chr8:132127879 [GRCh38]
Chr8:133140126 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*7143A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000380491]|Benign familial neonatal seizures [RCV000279047] Chr8:132122119 [GRCh38]
Chr8:133134366 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3165G>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000380759]|Benign familial neonatal seizures [RCV000288614] Chr8:132126097 [GRCh38]
Chr8:133138344 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*2876C>G single nucleotide variant Benign Neonatal Epilepsy [RCV000402489]|Benign familial neonatal seizures 2 [RCV000335407] Chr8:132126386 [GRCh38]
Chr8:133138633 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6238T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000275129]|Benign familial neonatal seizures 2 [RCV000388249] Chr8:132123024 [GRCh38]
Chr8:133135271 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*4043C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000275605]|Benign familial neonatal seizures 2 [RCV000319065] Chr8:132125219 [GRCh38]
Chr8:133137466 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*5255T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000311057]|Benign familial neonatal seizures [RCV000406298] Chr8:132124007 [GRCh38]
Chr8:133136254 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3035A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000332027]|Benign familial neonatal seizures [RCV000388882] Chr8:132126227 [GRCh38]
Chr8:133138474 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*5018C>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000356482]|Benign familial neonatal seizures [RCV000397530] Chr8:132124244 [GRCh38]
Chr8:133136491 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*1676T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000403800]|Benign familial neonatal seizures 2 [RCV000313787] Chr8:132127586 [GRCh38]
Chr8:133139833 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*3897C>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000403983]|Benign familial neonatal seizures [RCV000347870] Chr8:132125365 [GRCh38]
Chr8:133137612 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*5965T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000404383]|Benign familial neonatal seizures 2 [RCV000342195] Chr8:132123297 [GRCh38]
Chr8:133135544 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.-138T>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000260089]|Benign familial neonatal seizures [RCV000317751]|not provided [RCV000829956] Chr8:132480670 [GRCh38]
Chr8:133492917 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*3032A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000293171]|Benign familial neonatal seizures 2 [RCV000350482] Chr8:132126230 [GRCh38]
Chr8:133138477 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7722T>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000333531]|Benign familial neonatal seizures [RCV000381064] Chr8:132121540 [GRCh38]
Chr8:133133787 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3280G>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000357039]|Benign familial neonatal seizures [RCV000299900] Chr8:132125982 [GRCh38]
Chr8:133138229 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*717_*718CA[17] microsatellite Benign Neonatal Epilepsy [RCV000383690]|Benign familial neonatal seizures [RCV000294292] Chr8:132128508..132128511 [GRCh38]
Chr8:133140755..133140758 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7464C>A single nucleotide variant Benign Neonatal Epilepsy [RCV000405900]|Benign familial neonatal seizures 2 [RCV000280690] Chr8:132121798 [GRCh38]
Chr8:133134045 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*3262G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000405603]|Benign familial neonatal seizures 2 [RCV000298815] Chr8:132126000 [GRCh38]
Chr8:133138247 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*425C>A single nucleotide variant Benign Neonatal Epilepsy [RCV000406582]|Benign familial neonatal seizures 2 [RCV000307828] Chr8:132128837 [GRCh38]
Chr8:133141084 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7033T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000313012]|Benign familial neonatal seizures 2 [RCV000367650] Chr8:132122229 [GRCh38]
Chr8:133134476 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3544A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000313726]|Benign familial neonatal seizures 2 [RCV000392606] Chr8:132125718 [GRCh38]
Chr8:133137965 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*7504C>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000334774]|Benign familial neonatal seizures [RCV000286693] Chr8:132121758 [GRCh38]
Chr8:133134005 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*6199C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000336242]|Benign familial neonatal seizures [RCV000281222] Chr8:132123063 [GRCh38]
Chr8:133135310 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.132G>C (p.Gly44=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000406788]|Benign familial neonatal seizures [RCV000304281] Chr8:132480401 [GRCh38]
Chr8:133492648 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*4736G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000406854]|Benign familial neonatal seizures 2 [RCV000349999] Chr8:132124526 [GRCh38]
Chr8:133136773 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4027G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000279133]|Benign familial neonatal seizures [RCV000375759] Chr8:132125235 [GRCh38]
Chr8:133137482 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*6607A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000296042]|Benign familial neonatal seizures [RCV000350976] Chr8:132122655 [GRCh38]
Chr8:133134902 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*5719C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000314411]|Benign familial neonatal seizures [RCV000369033] Chr8:132123543 [GRCh38]
Chr8:133135790 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*4125T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000386323]|Benign familial neonatal seizures [RCV000334216] Chr8:132125137 [GRCh38]
Chr8:133137384 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*1407A>C single nucleotide variant Benign Neonatal Epilepsy [RCV000263407]|Benign familial neonatal seizures 2 [RCV000316317] Chr8:132127855 [GRCh38]
Chr8:133140102 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) single nucleotide variant Benign Neonatal Epilepsy [RCV000315403]|Benign familial neonatal seizures [RCV000351439]|not provided [RCV000877115] Chr8:132137929 [GRCh38]
Chr8:133150176 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*7413G>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000338198]|Benign familial neonatal seizures [RCV000405060] Chr8:132121849 [GRCh38]
Chr8:133134096 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*2847T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000361978]|Benign familial neonatal seizures [RCV000304931] Chr8:132126415 [GRCh38]
Chr8:133138662 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*7371T>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000369895]|Benign familial neonatal seizures [RCV000312836] Chr8:132121891 [GRCh38]
Chr8:133134138 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*6340G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000264257]|Benign familial neonatal seizures 2 [RCV000359034] Chr8:132122922 [GRCh38]
Chr8:133135169 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*4958A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000264487]|Benign familial neonatal seizures [RCV000359207] Chr8:132124304 [GRCh38]
Chr8:133136551 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*2166A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000280663]|Benign familial neonatal seizures 2 [RCV000386708] Chr8:132127096 [GRCh38]
Chr8:133139343 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4982del deletion Benign Neonatal Epilepsy [RCV000298041]|Benign familial neonatal seizures [RCV000352946] Chr8:132124280 [GRCh38]
Chr8:133136527 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*6446del deletion Benign Neonatal Epilepsy [RCV000298526]|Benign familial neonatal seizures [RCV000334819] Chr8:132122816 [GRCh38]
Chr8:133135063 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*3977G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000339629]|Benign familial neonatal seizures 2 [RCV000286936] Chr8:132125285 [GRCh38]
Chr8:133137532 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*1754C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000340516]|Benign familial neonatal seizures [RCV000391929] Chr8:132127508 [GRCh38]
Chr8:133139755 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*3597G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000340577]|Benign familial neonatal seizures 2 [RCV000383538] Chr8:132125665 [GRCh38]
Chr8:133137912 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*2271T>A single nucleotide variant Benign Neonatal Epilepsy [RCV000364033]|Benign familial neonatal seizures 2 [RCV000325647] Chr8:132126991 [GRCh38]
Chr8:133139238 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*4746_*4747insACAG insertion Benign Neonatal Epilepsy [RCV000389474]|Benign familial neonatal seizures [RCV000295226] Chr8:132124515..132124516 [GRCh38]
Chr8:133136762..133136763 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*1384G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000265508]|Benign familial neonatal seizures 2 [RCV000373312] Chr8:132127878 [GRCh38]
Chr8:133140125 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*6282A>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000364829]|Benign familial neonatal seizures [RCV000310129] Chr8:132122980 [GRCh38]
Chr8:133135227 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) single nucleotide variant Benign Neonatal Epilepsy [RCV000364676]|Benign familial neonatal seizures 2 [RCV000309906]|Benign familial neonatal seizures [RCV001241135] Chr8:132129716 [GRCh38]
Chr8:133141963 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*6831G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000265945]|Benign familial neonatal seizures [RCV000321076] Chr8:132122431 [GRCh38]
Chr8:133134678 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*4551T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000282389]|Benign familial neonatal seizures 2 [RCV000337324] Chr8:132124711 [GRCh38]
Chr8:133136958 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*2010T>A single nucleotide variant Benign Neonatal Epilepsy [RCV000282836]|Benign familial neonatal seizures 2 [RCV000391928] Chr8:132127252 [GRCh38]
Chr8:133139499 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*8148G>A single nucleotide variant Benign Neonatal Epilepsy [RCV000301153]|Benign familial neonatal seizures 2 [RCV000262306] Chr8:132121114 [GRCh38]
Chr8:133133361 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*5704C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000319979]|Benign familial neonatal seizures [RCV000274207] Chr8:132123558 [GRCh38]
Chr8:133135805 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_004519.4(KCNQ3):c.*1050A>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000392554]|Benign familial neonatal seizures [RCV000345940] Chr8:132128212 [GRCh38]
Chr8:133140459 [GRCh37]
Chr8:8q24.22
benign
NM_004519.4(KCNQ3):c.*7331A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000393226]|Benign familial neonatal seizures 2 [RCV000306845] Chr8:132121931 [GRCh38]
Chr8:133134178 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_004519.4(KCNQ3):c.*3216G>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000271139]|Benign familial neonatal seizures [RCV000328571] Chr8:132126046 [GRCh38]
Chr8:133138293 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*732A>G single nucleotide variant Benign Neonatal Epilepsy [RCV000406886]|Benign familial neonatal seizures 2 [RCV000281829] Chr8:132128530 [GRCh38]
Chr8:133140777 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*3692T>C single nucleotide variant Benign familial neonatal seizures 2 [RCV000260477]|Benign familial neonatal seizures [RCV000322644] Chr8:132125570 [GRCh38]
Chr8:133137817 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7243C>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000271845]|Benign familial neonatal seizures [RCV000364100] Chr8:132122019 [GRCh38]
Chr8:133134266 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*2921T>C single nucleotide variant Benign Neonatal Epilepsy [RCV000282445]|Benign familial neonatal seizures 2 [RCV000392992] Chr8:132126341 [GRCh38]
Chr8:133138588 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*5580G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000356148]|Benign familial neonatal seizures [RCV000261395] Chr8:132123682 [GRCh38]
Chr8:133135929 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*2385_*2388del deletion Benign Neonatal Epilepsy [RCV000365103]|Benign familial neonatal seizures [RCV000272873] Chr8:132126874..132126877 [GRCh38]
Chr8:133139121..133139124 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7512T>G single nucleotide variant Benign Neonatal Epilepsy [RCV000282719]|Benign familial neonatal seizures 2 [RCV000384652] Chr8:132121750 [GRCh38]
Chr8:133133997 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*3672C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000380008]|Benign familial neonatal seizures [RCV000283210] Chr8:132125590 [GRCh38]
Chr8:133137837 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-139dup duplication Benign Neonatal Epilepsy [RCV000310875]|Benign familial neonatal seizures [RCV000407602] Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1531A>G (p.Met511Val) single nucleotide variant not specified [RCV000278507] Chr8:132140113 [GRCh38]
Chr8:133152360 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1458T>A (p.Ser486Arg) single nucleotide variant not provided [RCV000280257] Chr8:132141136 [GRCh38]
Chr8:133153383 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-140_-139insTG insertion Benign Neonatal Epilepsy [RCV000262888]|Benign familial neonatal seizures [RCV000356150] Chr8:132480671..132480672 [GRCh38]
Chr8:133492918..133492919 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*755_*760del deletion Benign Neonatal Epilepsy [RCV000262494]|Benign familial neonatal seizures [RCV000357302] Chr8:132128502..132128507 [GRCh38]
Chr8:133140749..133140754 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1471G>A (p.Gly491Arg) single nucleotide variant Benign familial neonatal seizures [RCV000704485]|not provided [RCV000389265] Chr8:132140173 [GRCh38]
Chr8:133152420 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1980C>A (p.Thr660=) single nucleotide variant Benign Neonatal Epilepsy [RCV000318804]|Benign familial neonatal seizures 2 [RCV000263732] Chr8:132129901 [GRCh38]
Chr8:133142148 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-140_-139dup duplication Benign Neonatal Epilepsy [RCV000367865]|Benign familial neonatal seizures [RCV000406386] Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-141_-139dup duplication Benign Neonatal Epilepsy [RCV000371203]|Benign familial neonatal seizures [RCV000314300] Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1543C>G (p.Leu515Val) single nucleotide variant Benign familial neonatal seizures [RCV001237532]|not provided [RCV000726107] Chr8:132140101 [GRCh38]
Chr8:133152348 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*7980dup duplication Benign Neonatal Epilepsy [RCV000368277]|Benign familial neonatal seizures [RCV000275990] Chr8:132121281..132121282 [GRCh38]
Chr8:133133528..133133529 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-130_-129dup duplication Benign Neonatal Epilepsy [RCV000275950]|Benign familial neonatal seizures [RCV000386718] Chr8:132480660..132480661 [GRCh38]
Chr8:133492907..133492908 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*2266_*2269del deletion Benign Neonatal Epilepsy [RCV000276608]|Benign familial neonatal seizures [RCV000333968] Chr8:132126993..132126996 [GRCh38]
Chr8:133139240..133139243 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*3805C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000311151]|Benign familial neonatal seizures 2 [RCV000277133] Chr8:132125457 [GRCh38]
Chr8:133137704 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*2013C>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000341249]|Benign familial neonatal seizures [RCV000279260] Chr8:132127249 [GRCh38]
Chr8:133139496 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-135_-134dup duplication Benign Neonatal Epilepsy [RCV000279416]|Benign familial neonatal seizures [RCV000320021] Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*717_*718CA[20] microsatellite Benign Neonatal Epilepsy [RCV000268621]|Benign familial neonatal seizures [RCV000323679] Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2469dup (p.Ser824fs) duplication Benign familial neonatal seizures 2 [RCV001334267]|not provided [RCV000335977] Chr8:132129411..132129412 [GRCh38]
Chr8:133141658..133141659 [GRCh37]
Chr8:8q24.22
pathogenic|uncertain significance
NM_004519.4(KCNQ3):c.*717_*718CA[23] microsatellite Benign Neonatal Epilepsy [RCV000382476]|Benign familial neonatal seizures [RCV000269274] Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.913G>T (p.Asp305Tyr) single nucleotide variant not provided [RCV000490209] Chr8:132175473 [GRCh38]
Chr8:133187720 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_004519.4(KCNQ3):c.1529A>C (p.Asp510Ala) single nucleotide variant not provided [RCV000594611] Chr8:132140115 [GRCh38]
Chr8:133152362 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.924G>A (p.Trp308Ter) single nucleotide variant not provided [RCV000578676] Chr8:132175462 [GRCh38]
Chr8:133187709 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.387-12C>A single nucleotide variant not specified [RCV000603121] Chr8:132186193 [GRCh38]
Chr8:133198440 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.997G>C (p.Ala333Pro) single nucleotide variant not provided [RCV000488195] Chr8:132174286 [GRCh38]
Chr8:133186533 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*1066A>G single nucleotide variant Benign familial neonatal seizures 2 [RCV000291179]|Benign familial neonatal seizures [RCV000380830] Chr8:132128196 [GRCh38]
Chr8:133140443 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*4479C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000402789]|Benign familial neonatal seizures 2 [RCV000361831] Chr8:132124783 [GRCh38]
Chr8:133137030 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.788C>T (p.Thr263Met) single nucleotide variant Benign familial neonatal seizures [RCV001053331]|not provided [RCV000596752] Chr8:132175598 [GRCh38]
Chr8:133187845 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.604+16G>A single nucleotide variant not specified [RCV000605621] Chr8:132184225 [GRCh38]
Chr8:133196472 [GRCh37]
Chr8:8q24.22
likely benign
NM_004519.4(KCNQ3):c.*6461G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000386884]|Benign familial neonatal seizures [RCV000292210] Chr8:132122801 [GRCh38]
Chr8:133135048 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*755_*758del deletion Benign Neonatal Epilepsy [RCV000358650]|Benign familial neonatal seizures [RCV000303817] Chr8:132128504..132128507 [GRCh38]
Chr8:133140751..133140754 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*6205G>T single nucleotide variant Benign familial neonatal seizures 2 [RCV000330425]|Benign familial neonatal seizures [RCV000375710] Chr8:132123057 [GRCh38]
Chr8:133135304 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*5466T>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000346735]|Benign familial neonatal seizures [RCV000393608] Chr8:132123796 [GRCh38]
Chr8:133136043 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-134dup duplication Benign Neonatal Epilepsy [RCV000371620]|Benign familial neonatal seizures [RCV000333329] Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.1617G>C (p.Arg539Ser) single nucleotide variant not specified [RCV000517208] Chr8:132137968 [GRCh38]
Chr8:133150215 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) single nucleotide variant Benign Neonatal Epilepsy [RCV000406790]|Benign familial neonatal seizures [RCV000334828] Chr8:132480363 [GRCh38]
Chr8:133492610 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*717_*718CA[21] microsatellite Benign Neonatal Epilepsy [RCV000349204]|Benign familial neonatal seizures [RCV000389722] Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.2274G>A (p.Val758=) single nucleotide variant Benign familial neonatal seizures 2 [RCV000284360]|Benign familial neonatal seizures [RCV000339357] Chr8:132129607 [GRCh38]
Chr8:133141854 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-136_-134dup duplication Benign Neonatal Epilepsy [RCV000377033]|Benign familial neonatal seizures [RCV000284935] Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*743C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000295405]|Benign familial neonatal seizures 2 [RCV000335648] Chr8:132128519 [GRCh38]
Chr8:133140766 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*3217C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000320529]|Benign familial neonatal seizures 2 [RCV000358917] Chr8:132126045 [GRCh38]
Chr8:133138292 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.-148_-147insTG insertion Benign Neonatal Epilepsy [RCV000285110]|Benign familial neonatal seizures [RCV000324055] Chr8:132480679..132480680 [GRCh38]
Chr8:133492926..133492927 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*4008G>A single nucleotide variant Benign familial neonatal seizures 2 [RCV000379353]|Benign familial neonatal seizures [RCV000336502] Chr8:132125254 [GRCh38]
Chr8:133137501 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*716_*717insAACA insertion Benign Neonatal Epilepsy [RCV000407010]|Benign familial neonatal seizures [RCV000336825] Chr8:132128545..132128546 [GRCh38]
Chr8:133140792..133140793 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*5521C>T single nucleotide variant Benign Neonatal Epilepsy [RCV000322050]|Benign familial neonatal seizures [RCV000285699] Chr8:132123741 [GRCh38]
Chr8:133135988 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*4481C>A single nucleotide variant Benign Neonatal Epilepsy [RCV000403127]|Benign familial neonatal seizures 2 [RCV000297696] Chr8:132124781 [GRCh38]
Chr8:133137028 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_004519.4(KCNQ3):c.*757_*758CA[1] microsatellite Benign Neonatal Epilepsy [