KCND3 (potassium voltage-gated channel subfamily D member 3) - Rat Genome Database

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Gene: KCND3 (potassium voltage-gated channel subfamily D member 3) Homo sapiens
Analyze
Symbol: KCND3
Name: potassium voltage-gated channel subfamily D member 3
RGD ID: 68576
HGNC Page HGNC:6239
Description: Enables transmembrane transporter binding activity. Contributes to A-type (transient outward) potassium channel activity and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in potassium ion export across plasma membrane; regulation of heart rate by cardiac conduction; and ventricular cardiac muscle cell membrane repolarization. Part of voltage-gated potassium channel complex. Implicated in Brugada syndrome 9 and spinocerebellar ataxia type 19/22.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3; MGC142035; MGC142037; potassium channel, voltage gated Shal related subfamily D, member 3; potassium ionic channel Kv4.3; potassium voltage-gated channel long; potassium voltage-gated channel, Shal-related subfamily, member 3; SCA19; SCA22; sha1-related potassium channel Kv4.3; spinocerebellar ataxia 19; spinocerebellar ataxia 22; voltage-gated K+ channel; voltage-gated potassium channel Kv4.3; voltage-gated potassium channel subunit Kv4.3
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
GRCh381111,770,662 - 111,989,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,313,284 - 112,532,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,119,977 - 112,333,300 (-)NCBINCBI36Build 36hg18NCBI36
Build 341112,030,495 - 112,243,819NCBI
Celera1110,565,074 - 110,778,378 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,189,856 - 110,403,378 (-)NCBIHuRef
CHM1_11112,433,439 - 112,646,758 (-)NCBICHM1_1
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-aminopyridine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chelerythrine  (EXP)
clothianidin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (ISO)
diallyl trisulfide  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
fluoxetine  (EXP)
fulvestrant  (ISO)
genistein  (ISO)
glufosinate  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
phenylephrine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
progesterone  (ISO)
raloxifene  (EXP,ISO)
reserpine  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
excitatory synaptic transmission pathway  (ISO)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (ISO)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Kv4 potassium channel subunits control action potential repolarization and frequency-dependent broadening in rat hippocampal CA1 pyramidal neurones. Kim J, etal., J Physiol. 2005 Nov 15;569(Pt 1):41-57. Epub 2005 Sep 1.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Bone morphogenetic protein-4 contributes to the down-regulation of Kv4.3 K+ channels in pathological cardiac hypertrophy. Sun B, etal., Biochem Biophys Res Commun. 2013 Jul 12;436(4):591-4. doi: 10.1016/j.bbrc.2013.05.113. Epub 2013 Jun 6.
Additional References at PubMed
PMID:8734615   PMID:9843794   PMID:10200233   PMID:10729221   PMID:10942109   PMID:11284128   PMID:12297301   PMID:12384780   PMID:12477932   PMID:12764052   PMID:12928444   PMID:14645239  
PMID:14980207   PMID:15148151   PMID:15498806   PMID:15563876   PMID:15578212   PMID:15890703   PMID:16382104   PMID:16710414   PMID:16782062   PMID:17187064   PMID:17506992   PMID:17725712  
PMID:18052691   PMID:18620005   PMID:18678642   PMID:19213956   PMID:19927631   PMID:20301317   PMID:20301690   PMID:20354865   PMID:20379614   PMID:20550899   PMID:20649599   PMID:21129448  
PMID:21349352   PMID:21422811   PMID:21493962   PMID:21873635   PMID:22023388   PMID:22198508   PMID:22387313   PMID:22457051   PMID:22589738   PMID:22610502   PMID:22683750   PMID:23036686  
PMID:23280837   PMID:23280838   PMID:23291429   PMID:23400760   PMID:23963749   PMID:24762397   PMID:24785509   PMID:24845726   PMID:24850809   PMID:24963029   PMID:25600224   PMID:25854634  
PMID:26016905   PMID:26216464   PMID:28611215   PMID:29259226   PMID:30021884   PMID:30160358   PMID:30758987   PMID:30776697   PMID:31293010   PMID:31600170   PMID:32709127   PMID:32818936  
PMID:34067185   PMID:34666996   PMID:34857952   PMID:36724073  


Genomics

Comparative Map Data
KCND3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381111,770,662 - 111,989,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,313,284 - 112,532,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,119,977 - 112,333,300 (-)NCBINCBI36Build 36hg18NCBI36
Build 341112,030,495 - 112,243,819NCBI
Celera1110,565,074 - 110,778,378 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,189,856 - 110,403,378 (-)NCBIHuRef
CHM1_11112,433,439 - 112,646,758 (-)NCBICHM1_1
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBIT2T-CHM13v2.0
Kcnd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393105,359,206 - 105,581,318 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3105,359,646 - 105,581,318 (+)EnsemblGRCm39 Ensembl
GRCm383105,451,890 - 105,674,002 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3105,452,330 - 105,674,002 (+)EnsemblGRCm38mm10GRCm38
MGSCv373105,255,248 - 105,476,920 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363105,580,386 - 105,802,058 (+)NCBIMGSCv36mm8
Celera3107,640,899 - 107,862,899 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map346.32NCBI
Kcnd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82195,626,316 - 195,843,690 (+)NCBIGRCr8
mRatBN7.22192,937,950 - 193,155,345 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2192,937,950 - 193,155,345 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2200,532,308 - 200,749,767 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02198,418,563 - 198,635,769 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02193,235,506 - 193,452,721 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02207,923,775 - 208,140,727 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2207,923,775 - 208,140,727 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02227,345,052 - 227,561,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42200,709,778 - 200,924,575 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13128,828,320 - 128,840,436 (+)NCBI
Celera2185,602,165 - 185,617,489 (+)NCBICelera
Cytogenetic Map2q34NCBI
Kcnd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543515,227,615 - 15,431,190 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543515,227,386 - 15,431,136 (-)NCBIChiLan1.0ChiLan1.0
KCND3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21115,037,963 - 115,255,901 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11114,185,438 - 114,404,074 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01114,433,203 - 114,651,894 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11125,702,654 - 125,910,075 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1125,696,907 - 125,909,814 (+)Ensemblpanpan1.1panPan2
KCND3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11763,470,829 - 63,668,354 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1763,470,415 - 63,668,035 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1762,986,103 - 63,182,211 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01764,647,680 - 64,841,597 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1764,637,936 - 64,841,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11763,378,372 - 63,574,346 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01763,437,366 - 63,633,850 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01764,235,078 - 64,431,380 (+)NCBIUU_Cfam_GSD_1.0
Kcnd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505816,850,374 - 17,059,824 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936690422,883 - 621,308 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936690417,907 - 627,025 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCND3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4108,246,237 - 108,621,510 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14108,394,687 - 108,621,514 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24118,542,614 - 118,763,673 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCND3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12021,618,365 - 21,833,443 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2021,625,147 - 21,833,186 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603836,641,070 - 36,861,725 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247727,484,632 - 7,693,329 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247727,482,462 - 7,694,316 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCND3
498 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001296003]|not provided [RCV002223220]|not specified [RCV000518105] Chr1:111982281 [GRCh38]
Chr1:112524903 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000544304] Chr1:111776128 [GRCh38]
Chr1:112318750 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) single nucleotide variant Cardiovascular phenotype [RCV002397224]|Spinocerebellar ataxia type 19/22 [RCV000640964]|not provided [RCV001563036] Chr1:111777089 [GRCh38]
Chr1:112319711 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) single nucleotide variant Cardiovascular phenotype [RCV002341572]|Spinocerebellar ataxia type 19/22 [RCV001079409]|not provided [RCV000712064] Chr1:111982268 [GRCh38]
Chr1:112524890 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001370789]|not provided [RCV000712070] Chr1:111982636 [GRCh38]
Chr1:112525258 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000529534] Chr1:111777083 [GRCh38]
Chr1:112319705 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.937A>G (p.Thr313Ala) single nucleotide variant not specified [RCV000518168] Chr1:111981790 [GRCh38]
Chr1:112524412 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.397T>C (p.Tyr133His) single nucleotide variant not specified [RCV000517048] Chr1:111982330 [GRCh38]
Chr1:112524952 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1054A>G (p.Thr352Ala) single nucleotide variant not specified [RCV000517569] Chr1:111981673 [GRCh38]
Chr1:112524295 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) microsatellite Spinocerebellar ataxia type 19/22 [RCV000056298]|not provided [RCV001268494] Chr1:111982045..111982047 [GRCh38]
Chr1:112524667..112524669 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000056299]|not provided [RCV001268855] Chr1:111981673 [GRCh38]
Chr1:112524295 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1119G>A (p.Met373Ile) single nucleotide variant Variant of unknown significance [RCV000056300] Chr1:111787094 [GRCh38]
Chr1:112329716 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001849175]|Variant of unknown significance [RCV000056301] Chr1:111787044 [GRCh38]
Chr1:112329666 [GRCh37]
Chr1:1p13.2		 pathogenic|uncertain significance
NM_004980.4(KCND3):c.1107-80240A>G single nucleotide variant Lung cancer [RCV000089720] Chr1:111867346 [GRCh38]
Chr1:112409968 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) single nucleotide variant Cardiovascular phenotype [RCV000621441]|Spinocerebellar ataxia type 19/22 [RCV001513005]|not specified [RCV000117317] Chr1:111982463 [GRCh38]
Chr1:112525085 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) single nucleotide variant Brugada syndrome 9 [RCV000172844]|Spinocerebellar ataxia type 19/22 [RCV000460804]|not provided [RCV000444260] Chr1:111787039 [GRCh38]
Chr1:112329661 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) single nucleotide variant Brugada syndrome 9 [RCV000172842]|Cardiovascular phenotype [RCV000618307]|Spinocerebellar ataxia type 19/22 [RCV000552635]|not provided [RCV000415916]|not specified [RCV002247580] Chr1:111780713 [GRCh38]
Chr1:112323335 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) single nucleotide variant Brugada syndrome 9 [RCV000172843]|Cardiovascular phenotype [RCV000619002]|Spinocerebellar ataxia type 19/22 [RCV001370775]|Spinocerebellar ataxia type 19/22 [RCV002505242]|not provided [RCV000712060] Chr1:111776247 [GRCh38]
Chr1:112318869 [GRCh37]
Chr1:1p13.2		 pathogenic|likely benign|uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000194577] Chr1:111981693 [GRCh38]
Chr1:112524315 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) single nucleotide variant Cardiovascular phenotype [RCV000249346]|Spinocerebellar ataxia type 19/22 [RCV000558965]|not provided [RCV001555788]|not specified [RCV000208485] Chr1:111982086 [GRCh38]
Chr1:112524708 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) single nucleotide variant Cardiovascular phenotype [RCV002383993]|KCND3-related condition [RCV003979926]|Primary dilated cardiomyopathy [RCV000852587]|Spinocerebellar ataxia type 19/22 [RCV001078864]|not provided [RCV000766997]|not specified [RCV000518610] Chr1:111780707 [GRCh38]
Chr1:112323329 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.817G>A (p.Gly273Ser) single nucleotide variant Brugada syndrome [RCV000208136] Chr1:111981910 [GRCh38]
Chr1:112524532 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) single nucleotide variant Cardiovascular phenotype [RCV002365198]|Spinocerebellar ataxia type 19/22 [RCV001089194]|not provided [RCV000712067] Chr1:111982094 [GRCh38]
Chr1:112524716 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) single nucleotide variant Cardiovascular phenotype [RCV000620407]|Spinocerebellar ataxia type 19/22 [RCV000234137]|Spinocerebellar ataxia type 19/22 [RCV002487073]|not specified [RCV000443256] Chr1:111982058 [GRCh38]
Chr1:112524680 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) single nucleotide variant Cardiovascular phenotype [RCV000619982]|KCND3-related condition [RCV003965300]|Spinocerebellar ataxia type 19/22 [RCV001429957]|not provided [RCV001354553]|not specified [RCV001289014] Chr1:111777219 [GRCh38]
Chr1:112319841 [GRCh37]
Chr1:1p13.2		 benign|likely benign|uncertain significance
NM_001378969.1(KCND3):c.1519-5C>T single nucleotide variant Cardiovascular phenotype [RCV002395385]|Spinocerebellar ataxia type 19/22 [RCV001488862] Chr1:111777278 [GRCh38]
Chr1:112319900 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) single nucleotide variant Cardiovascular phenotype [RCV000253469]|Spinocerebellar ataxia type 19/22 [RCV000457933]|not provided [RCV001701983]|not specified [RCV000605395] Chr1:111982100 [GRCh38]
Chr1:112524722 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.855C>G (p.Ala285=) single nucleotide variant Cardiovascular phenotype [RCV000254275] Chr1:111981872 [GRCh38]
Chr1:112524494 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+15C>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002058177]|not specified [RCV000254436] Chr1:111786929 [GRCh38]
Chr1:112329551 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) single nucleotide variant Cardiovascular phenotype [RCV000243000]|Spinocerebellar ataxia type 19/22 [RCV000696815] Chr1:111777146 [GRCh38]
Chr1:112319768 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1416C>T (p.Ile472=) single nucleotide variant Cardiovascular phenotype [RCV003162737]|not provided [RCV001698414] Chr1:111780270 [GRCh38]
Chr1:112322892 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.186G>A (p.Pro62=) single nucleotide variant Cardiovascular phenotype [RCV000621298]|Spinocerebellar ataxia type 19/22 [RCV002529394]|not provided [RCV000994072] Chr1:111982541 [GRCh38]
Chr1:112525163 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=) single nucleotide variant Cardiovascular phenotype [RCV002384342]|KCND3-related condition [RCV003945494]|Spinocerebellar ataxia type 19/22 [RCV001443461]|not specified [RCV000606138] Chr1:111780702 [GRCh38]
Chr1:112323324 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640967] Chr1:111780725 [GRCh38]
Chr1:112323347 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.667T>C (p.Ser223Pro) single nucleotide variant not specified [RCV000516938] Chr1:111982060 [GRCh38]
Chr1:112524682 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.912C>G (p.Ser304=) single nucleotide variant Cardiovascular phenotype [RCV000620138] Chr1:111981815 [GRCh38]
Chr1:112524437 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.528C>G (p.Pro176=) single nucleotide variant Cardiovascular phenotype [RCV002350448]|not specified [RCV000605288] Chr1:111982199 [GRCh38]
Chr1:112524821 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) single nucleotide variant Cardiovascular phenotype [RCV000620690]|Spinocerebellar ataxia type 19/22 [RCV002483723]|not provided [RCV001270075] Chr1:111780690 [GRCh38]
Chr1:112323312 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+4T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640968] Chr1:111778432 [GRCh38]
Chr1:112321054 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) single nucleotide variant Brugada syndrome 9 [RCV000678953]|Cardiovascular phenotype [RCV000621723]|Spinocerebellar ataxia type 19/22 [RCV000801665] Chr1:111777036 [GRCh38]
Chr1:112319658 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu) single nucleotide variant not provided [RCV000413161] Chr1:111787018 [GRCh38]
Chr1:112329640 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) single nucleotide variant Cardiovascular phenotype [RCV000618676]|Inborn genetic diseases [RCV000624729]|Spinocerebellar ataxia type 19/22 [RCV001080205]|not provided [RCV000845314]|not specified [RCV000413117] Chr1:111982722 [GRCh38]
Chr1:112525344 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000542424] Chr1:111780748 [GRCh38]
Chr1:112323370 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-4G>T single nucleotide variant Cardiovascular phenotype [RCV000618672]|Spinocerebellar ataxia type 19/22 [RCV000473349]|not specified [RCV000418278] Chr1:111777277 [GRCh38]
Chr1:112319899 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.342C>T (p.Tyr114=) single nucleotide variant not specified [RCV000419334] Chr1:111982385 [GRCh38]
Chr1:112525007 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV000618142]|Spinocerebellar ataxia type 19/22 [RCV000459525]|not specified [RCV000419505] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) single nucleotide variant Cardiovascular phenotype [RCV000617945]|Spinocerebellar ataxia type 19/22 [RCV000469000]|not specified [RCV000436391] Chr1:111780738 [GRCh38]
Chr1:112323360 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) single nucleotide variant Brugada syndrome 9 [RCV002255097]|Neurodevelopmental delay [RCV003223405]|Spinocerebellar ataxia type 19/22 [RCV000757925]|not provided [RCV000430266] Chr1:111787102 [GRCh38]
Chr1:112329724 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_001378969.1(KCND3):c.1256G>A (p.Arg419His) single nucleotide variant Cardiovascular phenotype [RCV003298458]|not provided [RCV000420331] Chr1:111786957 [GRCh38]
Chr1:112329579 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000416456] Chr1:111787060 [GRCh38]
Chr1:112329682 [GRCh37]
Chr1:1p13.2		 pathogenic
GRCh37/hg19 1p13.2(chr1:112311427-113836310)x1 copy number loss See cases [RCV000448763] Chr1:112311427..113836310 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) single nucleotide variant not provided [RCV000483449] Chr1:111981676 [GRCh38]
Chr1:112524298 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) single nucleotide variant Cardiovascular phenotype [RCV002393199]|KCND3-related condition [RCV003925360]|Spinocerebellar ataxia type 19/22 [RCV001079066]|not provided [RCV000786333]|not specified [RCV000482547] Chr1:111780230 [GRCh38]
Chr1:112322852 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1269+6C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000468354] Chr1:111786938 [GRCh38]
Chr1:112329560 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) single nucleotide variant Cardiovascular phenotype [RCV000617822]|Spinocerebellar ataxia type 19/22 [RCV001392551]|not provided [RCV000712056]|not specified [RCV001700124] Chr1:111981665 [GRCh38]
Chr1:112524287 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) single nucleotide variant Cardiovascular phenotype [RCV000620105]|Spinocerebellar ataxia type 19/22 [RCV000472459]|Spinocerebellar ataxia type 19/22 [RCV002496827]|not provided [RCV001696884]|not specified [RCV000600534] Chr1:111982610 [GRCh38]
Chr1:112525232 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) single nucleotide variant Cardiovascular phenotype [RCV000618250]|Spinocerebellar ataxia type 19/22 [RCV000465050]|not specified [RCV000603249] Chr1:111981770 [GRCh38]
Chr1:112524392 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1411C>T (p.Leu471Phe) single nucleotide variant not provided [RCV000478027] Chr1:111780275 [GRCh38]
Chr1:112322897 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.870G>T (p.Arg290=) single nucleotide variant Cardiovascular phenotype [RCV002446884]|Spinocerebellar ataxia type 19/22 [RCV000473194] Chr1:111981857 [GRCh38]
Chr1:112524479 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) single nucleotide variant Brugada syndrome 9 [RCV000505597]|Cardiovascular phenotype [RCV003302733]|Spinocerebellar ataxia type 19/22 [RCV001857017]|Spinocerebellar ataxia type 19/22 [RCV002481586]|not provided [RCV000498826] Chr1:111780691 [GRCh38]
Chr1:112323313 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp) single nucleotide variant Cardiovascular phenotype [RCV003302830]|Spinocerebellar ataxia type 19/22 [RCV000537289] Chr1:111982638 [GRCh38]
Chr1:112525260 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000555772] Chr1:111777191 [GRCh38]
Chr1:112319813 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1269+13C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002065242]|not provided [RCV003411453]|not specified [RCV000605085] Chr1:111786931 [GRCh38]
Chr1:112329553 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) single nucleotide variant Brugada syndrome 9 [RCV003338690]|Cardiovascular phenotype [RCV000619969]|Spinocerebellar ataxia type 19/22 [RCV001226501]|not provided [RCV000992219] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1543A>C (p.Met515Leu) single nucleotide variant Cardiovascular phenotype [RCV000617210] Chr1:111777249 [GRCh38]
Chr1:112319871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met) single nucleotide variant Cardiovascular phenotype [RCV000617249]|not provided [RCV003129942] Chr1:111982101 [GRCh38]
Chr1:112524723 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) single nucleotide variant Cardiovascular phenotype [RCV000617345]|Spinocerebellar ataxia type 19/22 [RCV002506501] Chr1:111982664 [GRCh38]
Chr1:112525286 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=) single nucleotide variant Cardiovascular phenotype [RCV000617884]|Spinocerebellar ataxia type 19/22 [RCV001430427] Chr1:111787064 [GRCh38]
Chr1:112329686 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) single nucleotide variant Cardiovascular phenotype [RCV000618336]|Spinocerebellar ataxia type 19/22 [RCV001088457]|not provided [RCV000640970] Chr1:111776086 [GRCh38]
Chr1:112318708 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val) single nucleotide variant Cardiovascular phenotype [RCV002406386]|Spinocerebellar ataxia type 19/22 [RCV000640965] Chr1:111776196 [GRCh38]
Chr1:112318818 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.447C>T (p.Asp149=) single nucleotide variant Cardiovascular phenotype [RCV000619312]|Spinocerebellar ataxia type 19/22 [RCV001497688] Chr1:111982280 [GRCh38]
Chr1:112524902 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) single nucleotide variant Cardiovascular phenotype [RCV000617665]|Neurodevelopmental delay [RCV003223411]|not provided [RCV002510932] Chr1:111777147 [GRCh38]
Chr1:112319769 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) single nucleotide variant Cardiovascular phenotype [RCV002384140]|Spinocerebellar ataxia type 19/22 [RCV000532262]|not provided [RCV001697310]|not specified [RCV000607881] Chr1:111780753 [GRCh38]
Chr1:112323375 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-36G>C single nucleotide variant not specified [RCV000610261] Chr1:111982762 [GRCh38]
Chr1:112525384 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+10C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001457195]|not provided [RCV000712057]|not specified [RCV000610492] Chr1:111981611 [GRCh38]
Chr1:112524233 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-30G>A single nucleotide variant not specified [RCV000616451] Chr1:111982756 [GRCh38]
Chr1:112525378 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372-6T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640969] Chr1:111780320 [GRCh38]
Chr1:112322942 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.786C>T (p.Ile262=) single nucleotide variant Cardiovascular phenotype [RCV003160086]|Spinocerebellar ataxia type 19/22 [RCV001521120]|not specified [RCV000608500] Chr1:111981941 [GRCh38]
Chr1:112524563 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.727C>T (p.Leu243=) single nucleotide variant Cardiovascular phenotype [RCV002385942]|Spinocerebellar ataxia type 19/22 [RCV001493410]|not provided [RCV001171759]|not specified [RCV000614200] Chr1:111982000 [GRCh38]
Chr1:112524622 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.879C>T (p.Arg293=) single nucleotide variant Cardiovascular phenotype [RCV002377266]|Spinocerebellar ataxia type 19/22 [RCV002531527]|not specified [RCV000614327] Chr1:111981848 [GRCh38]
Chr1:112524470 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.-27del deletion not specified [RCV000614346] Chr1:111982753 [GRCh38]
Chr1:112525375 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) single nucleotide variant Cardiovascular phenotype [RCV002325144]|Spinocerebellar ataxia type 19/22 [RCV001517336]|Spinocerebellar ataxia type 19/22 [RCV002491246]|not provided [RCV000887628] Chr1:111787082 [GRCh38]
Chr1:112329704 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-73+753A>G single nucleotide variant not specified [RCV000601721] Chr1:111988752 [GRCh38]
Chr1:112531374 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_001378969.1(KCND3):c.651G>A (p.Pro217=) single nucleotide variant Cardiovascular phenotype [RCV002368048]|Spinocerebellar ataxia type 19/22 [RCV001411201]|not specified [RCV000603771] Chr1:111982076 [GRCh38]
Chr1:112524698 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr) single nucleotide variant Cardiovascular phenotype [RCV000620664]|Spinocerebellar ataxia type 19/22 [RCV001868114] Chr1:111982213 [GRCh38]
Chr1:112524835 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.693G>C (p.Thr231=) single nucleotide variant Cardiovascular phenotype [RCV000621941]|Spinocerebellar ataxia type 19/22 [RCV001411213] Chr1:111982034 [GRCh38]
Chr1:112524656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.38G>A (p.Arg13Gln) single nucleotide variant Cardiovascular phenotype [RCV000622168] Chr1:111982689 [GRCh38]
Chr1:112525311 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe) single nucleotide variant Cardiovascular phenotype [RCV002406387]|Inborn genetic diseases [RCV001266788]|Spinocerebellar ataxia type 19/22 [RCV000640966] Chr1:111776121 [GRCh38]
Chr1:112318743 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-47G>C single nucleotide variant not specified [RCV000600707] Chr1:111982773 [GRCh38]
Chr1:112525395 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000700474] Chr1:111777051 [GRCh38]
Chr1:112319673 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) single nucleotide variant Cardiovascular phenotype [RCV002360846]|Spinocerebellar ataxia type 19/22 [RCV001435759]|not provided [RCV000712068] Chr1:111982031 [GRCh38]
Chr1:112524653 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.906C>G (p.Arg302=) single nucleotide variant not provided [RCV000712069] Chr1:111981821 [GRCh38]
Chr1:112524443 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) single nucleotide variant Cardiovascular phenotype [RCV002386282]|Spinocerebellar ataxia type 19/22 [RCV001475879]|not provided [RCV000712071] Chr1:111981770 [GRCh38]
Chr1:112524392 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000702238] Chr1:111776111 [GRCh38]
Chr1:112318733 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1027G>A (p.Glu343Lys) single nucleotide variant not provided [RCV000712055] Chr1:111981700 [GRCh38]
Chr1:112524322 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His) single nucleotide variant Cardiovascular phenotype [RCV003303204]|Spinocerebellar ataxia type 19/22 [RCV001233302]|not provided [RCV000712058] Chr1:111776276 [GRCh38]
Chr1:112318898 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000691029]|Spinocerebellar ataxia type 19/22 [RCV002493172] Chr1:111778458 [GRCh38]
Chr1:112321080 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001441664]|not provided [RCV000712059] Chr1:111776251 [GRCh38]
Chr1:112318873 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) single nucleotide variant Cardiovascular phenotype [RCV002422622]|KCND3-related condition [RCV003965462]|Spinocerebellar ataxia type 19/22 [RCV001087318]|not provided [RCV000712061] Chr1:111982520 [GRCh38]
Chr1:112525142 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.433G>A (p.Glu145Lys) single nucleotide variant not provided [RCV000712062] Chr1:111982294 [GRCh38]
Chr1:112524916 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val) single nucleotide variant Cardiovascular phenotype [RCV003372832]|not provided [RCV000712063] Chr1:111982683 [GRCh38]
Chr1:112525305 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.553T>C (p.Phe185Leu) single nucleotide variant not provided [RCV000712065] Chr1:111982174 [GRCh38]
Chr1:112524796 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.633G>A (p.Pro211=) single nucleotide variant Cardiovascular phenotype [RCV003165946]|Spinocerebellar ataxia type 19/22 [RCV002532926]|not provided [RCV000712066] Chr1:111982094 [GRCh38]
Chr1:112524716 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) single nucleotide variant Cardiovascular phenotype [RCV002409014]|Spinocerebellar ataxia type 19/22 [RCV001522832]|not specified [RCV001664490] Chr1:111981938 [GRCh38]
Chr1:112524560 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853621]|not provided [RCV001268117] Chr1:111787083 [GRCh38]
Chr1:112329705 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1686G>A (p.Leu562=) single nucleotide variant Cardiovascular phenotype [RCV002414579] Chr1:111777106 [GRCh38]
Chr1:112319728 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1655AGA[1] (p.Lys553del) microsatellite not provided [RCV000994069] Chr1:111777132..111777134 [GRCh38]
Chr1:112319754..112319756 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1491G>A (p.Leu497=) single nucleotide variant not provided [RCV000994070] Chr1:111778463 [GRCh38]
Chr1:112321085 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-72-245C>T single nucleotide variant not provided [RCV001550759] Chr1:111983043 [GRCh38]
Chr1:112525665 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1107-250A>C single nucleotide variant not provided [RCV001680281] Chr1:111787356 [GRCh38]
Chr1:112329978 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu) single nucleotide variant Seizure [RCV001007561] Chr1:111981651 [GRCh38]
Chr1:112524273 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.621C>T (p.Cys207=) single nucleotide variant Cardiovascular phenotype [RCV002363445]|not provided [RCV000942588] Chr1:111982106 [GRCh38]
Chr1:112524728 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1766+3G>A single nucleotide variant Cardiovascular phenotype [RCV003372896]|Spinocerebellar ataxia type 19/22 [RCV001437574]|not provided [RCV000865219] Chr1:111777023 [GRCh38]
Chr1:112319645 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001434154] Chr1:111787046 [GRCh38]
Chr1:112329668 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1524C>T (p.His508=) single nucleotide variant Cardiovascular phenotype [RCV002390851]|Spinocerebellar ataxia type 19/22 [RCV001412114] Chr1:111777268 [GRCh38]
Chr1:112319890 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) single nucleotide variant Cardiovascular phenotype [RCV002390765]|Spinocerebellar ataxia type 19/22 [RCV001402272]|Spinocerebellar ataxia type 19/22 [RCV002501244]|not provided [RCV003389661] Chr1:111981686 [GRCh38]
Chr1:112524308 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.609G>A (p.Glu203=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001437231] Chr1:111982118 [GRCh38]
Chr1:112524740 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.618G>A (p.Pro206=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000869630] Chr1:111982109 [GRCh38]
Chr1:112524731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1767-72T>C single nucleotide variant not provided [RCV000839148] Chr1:111776350 [GRCh38]
Chr1:112318972 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1270-153G>C single nucleotide variant not provided [RCV000839354] Chr1:111780944 [GRCh38]
Chr1:112323566 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372-112dup duplication not provided [RCV000838328] Chr1:111780417..111780418 [GRCh38]
Chr1:112323039..112323040 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+154C>T single nucleotide variant not provided [RCV000835773] Chr1:111786790 [GRCh38]
Chr1:112329412 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1372-34G>A single nucleotide variant not provided [RCV000834173] Chr1:111780348 [GRCh38]
Chr1:112322970 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.-72-119T>C single nucleotide variant not provided [RCV000842146] Chr1:111982917 [GRCh38]
Chr1:112525539 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) single nucleotide variant Cardiovascular phenotype [RCV002406777]|Spinocerebellar ataxia type 19/22 [RCV000801617]|Spinocerebellar ataxia type 19/22 [RCV002477834] Chr1:111776166 [GRCh38]
Chr1:112318788 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000821670] Chr1:111780722 [GRCh38]
Chr1:112323344 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002550634]|not provided [RCV000992222] Chr1:111777095 [GRCh38]
Chr1:112319717 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-96G>A single nucleotide variant not provided [RCV000838648] Chr1:111777369 [GRCh38]
Chr1:112319991 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1518+258G>A single nucleotide variant not provided [RCV000843722] Chr1:111778178 [GRCh38]
Chr1:112320800 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met) single nucleotide variant Cardiovascular phenotype [RCV003296835] Chr1:111777068 [GRCh38]
Chr1:112319690 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000811749] Chr1:111776261 [GRCh38]
Chr1:112318883 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1 copy number loss not provided [RCV000849607] Chr1:110994179..112360446 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.-72-284C>A single nucleotide variant not provided [RCV000831602] Chr1:111983082 [GRCh38]
Chr1:112525704 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1549G>C (p.Glu517Gln) single nucleotide variant not provided [RCV000992221] Chr1:111777243 [GRCh38]
Chr1:112319865 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-72-311T>C single nucleotide variant not provided [RCV000843720] Chr1:111983109 [GRCh38]
Chr1:112525731 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1766+260T>C single nucleotide variant not provided [RCV000843721] Chr1:111776766 [GRCh38]
Chr1:112319388 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1269+270C>T single nucleotide variant not provided [RCV000844072] Chr1:111786674 [GRCh38]
Chr1:112329296 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1106+296G>T single nucleotide variant not provided [RCV000832077] Chr1:111981325 [GRCh38]
Chr1:112523947 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-208A>G single nucleotide variant not provided [RCV000842041] Chr1:111778700 [GRCh38]
Chr1:112321322 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000850227] Chr1:111982470 [GRCh38]
Chr1:112525092 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) single nucleotide variant Cardiovascular phenotype [RCV002372712]|Spinocerebellar ataxia type 19/22 [RCV002549786]|not provided [RCV000992218] Chr1:111780784 [GRCh38]
Chr1:112323406 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) single nucleotide variant Cardiovascular phenotype [RCV002327217]|Spinocerebellar ataxia type 19/22 [RCV002550635]|not provided [RCV000992223] Chr1:111982297 [GRCh38]
Chr1:112524919 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.9C>T (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002381967]|Spinocerebellar ataxia type 19/22 [RCV000869686] Chr1:111982718 [GRCh38]
Chr1:112525340 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) single nucleotide variant Cardiovascular phenotype [RCV002391049]|Spinocerebellar ataxia type 19/22 [RCV001214863]|not provided [RCV000992220] Chr1:111780259 [GRCh38]
Chr1:112322881 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001231433]|not provided [RCV002473233] Chr1:111780299 [GRCh38]
Chr1:112322921 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001242995] Chr1:111982471 [GRCh38]
Chr1:112525093 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001235255]|Spinocerebellar ataxia type 19/22 [RCV002480767] Chr1:111982381 [GRCh38]
Chr1:112525003 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001210201] Chr1:111982341 [GRCh38]
Chr1:112524963 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853618] Chr1:111981777 [GRCh38]
Chr1:112524399 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853619] Chr1:111981714 [GRCh38]
Chr1:112524336 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1937C>A (p.Ala646Asp) single nucleotide variant not provided [RCV003231716] Chr1:111776108 [GRCh38]
Chr1:112318730 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002073092]|not specified [RCV001663483] Chr1:111982235 [GRCh38]
Chr1:112524857 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-67A>G single nucleotide variant not provided [RCV001555210] Chr1:111777340 [GRCh38]
Chr1:112319962 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.*225T>C single nucleotide variant not provided [RCV001561984] Chr1:111775852 [GRCh38]
Chr1:112318474 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853620] Chr1:111787090 [GRCh38]
Chr1:112329712 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.519C>T (p.Phe173=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000863811] Chr1:111982208 [GRCh38]
Chr1:112524830 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.576C>T (p.Phe192=) single nucleotide variant Cardiovascular phenotype [RCV002354697]|Spinocerebellar ataxia type 19/22 [RCV001445244] Chr1:111982151 [GRCh38]
Chr1:112524773 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001226500] Chr1:111776102 [GRCh38]
Chr1:112318724 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-6dup duplication Spinocerebellar ataxia type 19/22 [RCV002068717]|not provided [RCV000994071]|not specified [RCV001701280] Chr1:111780319..111780320 [GRCh38]
Chr1:112322941..112322942 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1518+212A>C single nucleotide variant not provided [RCV001595374] Chr1:111778224 [GRCh38]
Chr1:112320846 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1586C>T (p.Pro529Leu) single nucleotide variant not provided [RCV003237139] Chr1:111777206 [GRCh38]
Chr1:112319828 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107-110C>A single nucleotide variant not provided [RCV001655025] Chr1:111787216 [GRCh38]
Chr1:112329838 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1518+26A>T single nucleotide variant not provided [RCV001717733] Chr1:111778410 [GRCh38]
Chr1:112321032 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.-73+620G>T single nucleotide variant not provided [RCV001717734] Chr1:111988885 [GRCh38]
Chr1:112531507 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.*215T>C single nucleotide variant not provided [RCV001677655] Chr1:111775862 [GRCh38]
Chr1:112318484 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) single nucleotide variant Cardiovascular phenotype [RCV003307800]|Spinocerebellar ataxia type 19/22 [RCV001027678] Chr1:111981657 [GRCh38]
Chr1:112524279 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1766+224dup duplication not provided [RCV001585358] Chr1:111776791..111776792 [GRCh38]
Chr1:112319413..112319414 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371+116C>T single nucleotide variant not provided [RCV001679937] Chr1:111780574 [GRCh38]
Chr1:112323196 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) single nucleotide variant Cardiovascular phenotype [RCV002357167]|Spinocerebellar ataxia type 19/22 [RCV001647138] Chr1:111982116 [GRCh38]
Chr1:112524738 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1518+74C>T single nucleotide variant not provided [RCV001610280] Chr1:111778362 [GRCh38]
Chr1:112320984 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) single nucleotide variant Cardiovascular phenotype [RCV003163786]|Spinocerebellar ataxia type 19/22 [RCV003640983]|not provided [RCV001663479] Chr1:111780747 [GRCh38]
Chr1:112323369 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.-1C>T single nucleotide variant not provided [RCV001663480] Chr1:111982727 [GRCh38]
Chr1:112525349 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs) deletion not provided [RCV001171758] Chr1:111778464..111778465 [GRCh38]
Chr1:112321086..112321087 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) single nucleotide variant Cardiovascular phenotype [RCV002418669]|Spinocerebellar ataxia type 19/22 [RCV001202743] Chr1:111776085 [GRCh38]
Chr1:112318707 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001038365] Chr1:111778452 [GRCh38]
Chr1:112321074 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001040344] Chr1:111982279 [GRCh38]
Chr1:112524901 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) single nucleotide variant Cardiovascular phenotype [RCV002411741]|Spinocerebellar ataxia type 19/22 [RCV001203107]|Spinocerebellar ataxia type 19/22 [RCV002504232]|not provided [RCV003148945] Chr1:111776156 [GRCh38]
Chr1:112318778 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001253322]|not provided [RCV002462885] Chr1:111981858 [GRCh38]
Chr1:112524480 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.356C>A (p.Ala119Asp) single nucleotide variant not provided [RCV001663482] Chr1:111982371 [GRCh38]
Chr1:112524993 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1124C>T (p.Pro375Leu) single nucleotide variant Inborn genetic diseases [RCV001266978] Chr1:111787089 [GRCh38]
Chr1:112329711 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001313233]|Spinocerebellar ataxia type 19/22 [RCV002486221] Chr1:111777192 [GRCh38]
Chr1:112319814 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.910T>C (p.Ser304Pro) single nucleotide variant not provided [RCV001268242] Chr1:111981817 [GRCh38]
Chr1:112524439 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.407A>G (p.Tyr136Cys) single nucleotide variant not provided [RCV001289017] Chr1:111982320 [GRCh38]
Chr1:112524942 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.228C>T (p.Asn76=) single nucleotide variant not specified [RCV001663481] Chr1:111982499 [GRCh38]
Chr1:112525121 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.*257dup duplication not provided [RCV001581405] Chr1:111775819..111775820 [GRCh38]
Chr1:112318441..112318442 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.240G>A (p.Lys80=) single nucleotide variant not provided [RCV001312089] Chr1:111982487 [GRCh38]
Chr1:112525109 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.105C>T (p.Asn35=) single nucleotide variant not provided [RCV001312090] Chr1:111982622 [GRCh38]
Chr1:112525244 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.878G>A (p.Arg293His) single nucleotide variant Cardiovascular phenotype [RCV002377451]|Spinocerebellar ataxia type 19/22 [RCV001342147] Chr1:111981849 [GRCh38]
Chr1:112524471 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001300818] Chr1:111981657 [GRCh38]
Chr1:112524279 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107A>C (p.Gly369=) single nucleotide variant not provided [RCV001312087] Chr1:111787106 [GRCh38]
Chr1:112329728 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003389334]|not provided [RCV001289013] Chr1:111787063 [GRCh38]
Chr1:112329685 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_001378969.1(KCND3):c.429C>T (p.Asn143=) single nucleotide variant not provided [RCV001289018] Chr1:111982298 [GRCh38]
Chr1:112524920 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) single nucleotide variant Cardiovascular phenotype [RCV002393688]|Spinocerebellar ataxia type 19/22 [RCV001871726]|Spinocerebellar ataxia type 19/22 [RCV002493522]|not provided [RCV001289015] Chr1:111777143 [GRCh38]
Chr1:112319765 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001327715]|Spinocerebellar ataxia type 19/22 [RCV002493711] Chr1:111776099 [GRCh38]
Chr1:112318721 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.321C>A (p.Arg107=) single nucleotide variant Cardiovascular phenotype [RCV002322181]|Spinocerebellar ataxia type 19/22 [RCV002070087]|not provided [RCV001289016] Chr1:111982406 [GRCh38]
Chr1:112525028 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.930G>A (p.Leu310=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001301777] Chr1:111981797 [GRCh38]
Chr1:112524419 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001345248] Chr1:111778476 [GRCh38]
Chr1:112321098 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001317005] Chr1:111982645 [GRCh38]
Chr1:112525267 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.717G>A (p.Val239=) single nucleotide variant not provided [RCV001312088] Chr1:111982010 [GRCh38]
Chr1:112524632 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001366954] Chr1:111776181 [GRCh38]
Chr1:112318803 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile) single nucleotide variant Inborn genetic diseases [RCV002547893]|Spinocerebellar ataxia type 19/22 [RCV001368781] Chr1:111777158 [GRCh38]
Chr1:112319780 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val) single nucleotide variant Cardiovascular phenotype [RCV003298837]|Spinocerebellar ataxia type 19/22 [RCV001478107] Chr1:111776180 [GRCh38]
Chr1:112318802 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1270-6T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001475014] Chr1:111780797 [GRCh38]
Chr1:112323419 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.339C>T (p.Ala113=) single nucleotide variant Cardiovascular phenotype [RCV003298883]|Spinocerebellar ataxia type 19/22 [RCV001495689] Chr1:111982388 [GRCh38]
Chr1:112525010 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.522G>A (p.Glu174=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001443413] Chr1:111982205 [GRCh38]
Chr1:112524827 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.318G>A (p.Pro106=) single nucleotide variant Cardiovascular phenotype [RCV002322410]|Spinocerebellar ataxia type 19/22 [RCV001410054] Chr1:111982409 [GRCh38]
Chr1:112525031 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001410791] Chr1:111787040 [GRCh38]
Chr1:112329662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.837C>T (p.Asn279=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001447584] Chr1:111981890 [GRCh38]
Chr1:112524512 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=) single nucleotide variant Cardiovascular phenotype [RCV003160860]|Spinocerebellar ataxia type 19/22 [RCV001458840] Chr1:111787067 [GRCh38]
Chr1:112329689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=) single nucleotide variant Cardiovascular phenotype [RCV002414238]|Spinocerebellar ataxia type 19/22 [RCV001516541] Chr1:111776155 [GRCh38]
Chr1:112318777 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=) single nucleotide variant Cardiovascular phenotype [RCV002384723]|Spinocerebellar ataxia type 19/22 [RCV001458831] Chr1:111981701 [GRCh38]
Chr1:112524323 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001419862] Chr1:111981662 [GRCh38]
Chr1:112524284 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002272493]|not provided [RCV001755248] Chr1:111981744 [GRCh38]
Chr1:112524366 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV001726766] Chr1:111981667 [GRCh38]
Chr1:112524289 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1050G>T (p.Lys350Asn) single nucleotide variant not provided [RCV001726767] Chr1:111981677 [GRCh38]
Chr1:112524299 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.477C>A (p.Ser159=) single nucleotide variant not provided [RCV001755457] Chr1:111982250 [GRCh38]
Chr1:112524872 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1102C>A (p.Leu368Met) single nucleotide variant not provided [RCV001726765] Chr1:111981625 [GRCh38]
Chr1:112524247 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1063C>T (p.Pro355Ser) single nucleotide variant not provided [RCV003238390] Chr1:111981664 [GRCh38]
Chr1:112524286 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.785T>G (p.Ile262Ser) single nucleotide variant not provided [RCV001768007] Chr1:111981942 [GRCh38]
Chr1:112524564 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1313C>T (p.Ser438Leu) single nucleotide variant not provided [RCV003238389] Chr1:111780748 [GRCh38]
Chr1:112323370 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1069T>C (p.Ser357Pro) single nucleotide variant not provided [RCV001766123] Chr1:111981658 [GRCh38]
Chr1:112524280 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.838G>A (p.Glu280Lys) single nucleotide variant not provided [RCV001766084] Chr1:111981889 [GRCh38]
Chr1:112524511 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.772G>A (p.Val258Ile) single nucleotide variant not provided [RCV001766261] Chr1:111981955 [GRCh38]
Chr1:112524577 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.496C>T (p.Arg166Cys) single nucleotide variant not provided [RCV001757431] Chr1:111982231 [GRCh38]
Chr1:112524853 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-4G>A single nucleotide variant not provided [RCV001776926] Chr1:111777277 [GRCh38]
Chr1:112319899 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.110G>A (p.Arg37Gln) single nucleotide variant not provided [RCV001758865] Chr1:111982617 [GRCh38]
Chr1:112525239 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001809143] Chr1:111981921 [GRCh38]
Chr1:112524543 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.660G>A (p.Glu220=) single nucleotide variant Cardiovascular phenotype [RCV002370653]|Spinocerebellar ataxia type 19/22 [RCV002025182] Chr1:111982067 [GRCh38]
Chr1:112524689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001969736] Chr1:111776186 [GRCh38]
Chr1:112318808 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala) single nucleotide variant Cardiovascular phenotype [RCV002397836]|Spinocerebellar ataxia type 19/22 [RCV001890267] Chr1:111777257 [GRCh38]
Chr1:112319879 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001986123] Chr1:111776160 [GRCh38]
Chr1:112318782 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001872237] Chr1:111777267 [GRCh38]
Chr1:112319889 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002039779] Chr1:111776273 [GRCh38]
Chr1:112318895 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) single nucleotide variant Cardiovascular phenotype [RCV002397991]|Spinocerebellar ataxia type 19/22 [RCV001982863]|Spinocerebellar ataxia type 19/22 [RCV002479549] Chr1:111777090 [GRCh38]
Chr1:112319712 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.478A>G (p.Met160Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001871015] Chr1:111982249 [GRCh38]
Chr1:112524871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.868C>T (p.Arg290Trp) single nucleotide variant KCND3-Related Disorder [RCV001825224] Chr1:111981859 [GRCh38]
Chr1:112524481 [GRCh37]
Chr1:1p13.2		 not provided
NM_001378969.1(KCND3):c.1462-10T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001986994] Chr1:111778502 [GRCh38]
Chr1:112321124 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) single nucleotide variant Cardiovascular phenotype [RCV002386506]|Spinocerebellar ataxia type 19/22 [RCV001849200] Chr1:111780770 [GRCh38]
Chr1:112323392 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val) single nucleotide variant Cardiovascular phenotype [RCV002386784]|Spinocerebellar ataxia type 19/22 [RCV001969896] Chr1:111982629 [GRCh38]
Chr1:112525251 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001945914] Chr1:111982176 [GRCh38]
Chr1:112524798 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001970368] Chr1:111777120 [GRCh38]
Chr1:112319742 [GRCh37]
Chr1:1p13.2		 uncertain significance
NC_000001.10:g.(?_112524223)_(112525348_?)dup duplication Spinocerebellar ataxia type 19/22 [RCV001920565] Chr1:112524223..112525348 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) single nucleotide variant Inborn genetic diseases [RCV002592549]|Spinocerebellar ataxia type 19/22 [RCV002001018] Chr1:111981810 [GRCh38]
Chr1:112524432 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser) single nucleotide variant Inborn genetic diseases [RCV002552182]|Spinocerebellar ataxia type 19/22 [RCV001885659] Chr1:111776172 [GRCh38]
Chr1:112318794 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001887142] Chr1:111981988 [GRCh38]
Chr1:112524610 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys) single nucleotide variant Inborn genetic diseases [RCV002556321]|Spinocerebellar ataxia type 19/22 [RCV001922966] Chr1:111777144 [GRCh38]
Chr1:112319766 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1371+5G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002011662] Chr1:111780685 [GRCh38]
Chr1:112323307 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001880450] Chr1:111777047 [GRCh38]
Chr1:112319669 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001954317] Chr1:111777218 [GRCh38]
Chr1:112319840 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002027009] Chr1:111982012 [GRCh38]
Chr1:112524634 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001931429] Chr1:111982291 [GRCh38]
Chr1:112524913 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala) single nucleotide variant Cardiovascular phenotype [RCV002407053]|Spinocerebellar ataxia type 19/22 [RCV001918372] Chr1:111776184 [GRCh38]
Chr1:112318806 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002047753] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val) single nucleotide variant Cardiovascular phenotype [RCV002389029]|Spinocerebellar ataxia type 19/22 [RCV002011718] Chr1:111780293 [GRCh38]
Chr1:112322915 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001940279] Chr1:111981710 [GRCh38]
Chr1:112524332 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002049543] Chr1:111982105 [GRCh38]
Chr1:112524727 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001920263] Chr1:111776150 [GRCh38]
Chr1:112318772 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002048119] Chr1:111780268 [GRCh38]
Chr1:112322890 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002014665] Chr1:111982617 [GRCh38]
Chr1:112525239 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.36C>T (p.Ala12=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002185795] Chr1:111982691 [GRCh38]
Chr1:112525313 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-13T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002071793] Chr1:111778505 [GRCh38]
Chr1:112321127 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=) single nucleotide variant Cardiovascular phenotype [RCV002382429]|Spinocerebellar ataxia type 19/22 [RCV002129109] Chr1:111780699 [GRCh38]
Chr1:112323321 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.348C>T (p.Asp116=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002111139] Chr1:111982379 [GRCh38]
Chr1:112525001 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=) single nucleotide variant Cardiovascular phenotype [RCV003161328]|Spinocerebellar ataxia type 19/22 [RCV002089599] Chr1:111780693 [GRCh38]
Chr1:112323315 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1518+18T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002210117] Chr1:111778418 [GRCh38]
Chr1:112321040 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-20_1519-18del microsatellite Spinocerebellar ataxia type 19/22 [RCV002207516] Chr1:111777291..111777293 [GRCh38]
Chr1:112319913..112319915 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=) single nucleotide variant Cardiovascular phenotype [RCV002409547]|Spinocerebellar ataxia type 19/22 [RCV002086644]|not provided [RCV003408138] Chr1:111777040 [GRCh38]
Chr1:112319662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+11G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002144770] Chr1:111981610 [GRCh38]
Chr1:112524232 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.92C>T (p.Pro31Leu) single nucleotide variant not provided [RCV002223545] Chr1:111982635 [GRCh38]
Chr1:112525257 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1276C>T (p.Arg426Cys) single nucleotide variant not provided [RCV002224249] Chr1:111780785 [GRCh38]
Chr1:112323407 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.999C>T (p.Ile333=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002071140] Chr1:111981728 [GRCh38]
Chr1:112524350 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1107-47915C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002132247] Chr1:111835021 [GRCh38]
Chr1:112377643 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=) single nucleotide variant Cardiovascular phenotype [RCV002324561]|KCND3-related condition [RCV003968844]|Spinocerebellar ataxia type 19/22 [RCV002081118] Chr1:111982403 [GRCh38]
Chr1:112525025 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002116914] Chr1:111787040 [GRCh38]
Chr1:112329662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+18G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002192924] Chr1:111786926 [GRCh38]
Chr1:112329548 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.624C>T (p.Gly208=) single nucleotide variant Cardiovascular phenotype [RCV002361420]|Spinocerebellar ataxia type 19/22 [RCV002099573] Chr1:111982103 [GRCh38]
Chr1:112524725 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=) single nucleotide variant Cardiovascular phenotype [RCV002382271]|Spinocerebellar ataxia type 19/22 [RCV002157266] Chr1:111780708 [GRCh38]
Chr1:112323330 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1799G>C (p.Gly600Ala) single nucleotide variant not provided [RCV002245144] Chr1:111776246 [GRCh38]
Chr1:112318868 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.96C>T (p.Ala32=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002139683] Chr1:111982631 [GRCh38]
Chr1:112525253 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+14G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002120984] Chr1:111786930 [GRCh38]
Chr1:112329552 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) single nucleotide variant Cardiovascular phenotype [RCV002391328]|Spinocerebellar ataxia type 19/22 [RCV002139028]|not provided [RCV002291799] Chr1:111778462 [GRCh38]
Chr1:112321084 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1381G>A (p.Glu461Lys) single nucleotide variant not specified [RCV002247917] Chr1:111780305 [GRCh38]
Chr1:112322927 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) single nucleotide variant Cardiovascular phenotype [RCV002352850]|Spinocerebellar ataxia type 19/22 [RCV002119742]|not specified [RCV003987970] Chr1:111982328 [GRCh38]
Chr1:112524950 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-10C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002198687] Chr1:111777283 [GRCh38]
Chr1:112319905 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.969T>C (p.Phe323=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002200006] Chr1:111981758 [GRCh38]
Chr1:112524380 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.600C>T (p.Asn200=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002218120] Chr1:111982127 [GRCh38]
Chr1:112524749 [GRCh37]
Chr1:1p13.2		 likely benign
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2		 pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.349G>C (p.Glu117Gln) single nucleotide variant not provided [RCV003123234] Chr1:111982378 [GRCh38]
Chr1:112525000 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002273033] Chr1:111981822 [GRCh38]
Chr1:112524444 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.239A>G (p.Lys80Arg) single nucleotide variant Cardiovascular phenotype [RCV003296834] Chr1:111982488 [GRCh38]
Chr1:112525110 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.460G>A (p.Glu154Lys) single nucleotide variant Cardiovascular phenotype [RCV003296837] Chr1:111982267 [GRCh38]
Chr1:112524889 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002273254] Chr1:111981816 [GRCh38]
Chr1:112524438 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.741G>A (p.Ala247=) single nucleotide variant Cardiovascular phenotype [RCV002384970] Chr1:111981986 [GRCh38]
Chr1:112524608 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.540G>A (p.Thr180=) single nucleotide variant Cardiovascular phenotype [RCV002349413] Chr1:111982187 [GRCh38]
Chr1:112524809 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1057A>G (p.Ser353Gly) single nucleotide variant not provided [RCV002262240] Chr1:111981670 [GRCh38]
Chr1:112524292 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1255C>T (p.Arg419Cys) single nucleotide variant Cardiovascular phenotype [RCV002419277] Chr1:111786958 [GRCh38]
Chr1:112329580 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.387G>T (p.Gly129=) single nucleotide variant Cardiovascular phenotype [RCV002366306] Chr1:111982340 [GRCh38]
Chr1:112524962 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1559G>A (p.Cys520Tyr) single nucleotide variant not specified [RCV002282874] Chr1:111777233 [GRCh38]
Chr1:112319855 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.740C>T (p.Ala247Val) single nucleotide variant not provided [RCV002291916] Chr1:111981987 [GRCh38]
Chr1:112524609 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.372C>G (p.Leu124=) single nucleotide variant Cardiovascular phenotype [RCV002349158] Chr1:111982355 [GRCh38]
Chr1:112524977 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1376C>A (p.Thr459Asn) single nucleotide variant Cardiovascular phenotype [RCV002383819] Chr1:111780310 [GRCh38]
Chr1:112322932 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.363C>T (p.Tyr121=) single nucleotide variant Cardiovascular phenotype [RCV002452410] Chr1:111982364 [GRCh38]
Chr1:112524986 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>C (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV002349361] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.369C>T (p.Ile123=) single nucleotide variant Cardiovascular phenotype [RCV002348873] Chr1:111982358 [GRCh38]
Chr1:112524980 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.300G>A (p.Thr100=) single nucleotide variant Cardiovascular phenotype [RCV002435761] Chr1:111982427 [GRCh38]
Chr1:112525049 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.714C>G (p.Thr238=) single nucleotide variant Cardiovascular phenotype [RCV002367522] Chr1:111982013 [GRCh38]
Chr1:112524635 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.552C>G (p.Val184=) single nucleotide variant Cardiovascular phenotype [RCV002351810] Chr1:111982175 [GRCh38]
Chr1:112524797 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.367A>G (p.Ile123Val) single nucleotide variant Cardiovascular phenotype [RCV002452702] Chr1:111982360 [GRCh38]
Chr1:112524982 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.547C>T (p.Leu183=) single nucleotide variant Cardiovascular phenotype [RCV002349835] Chr1:111982180 [GRCh38]
Chr1:112524802 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.300G>T (p.Thr100=) single nucleotide variant Cardiovascular phenotype [RCV002435768] Chr1:111982427 [GRCh38]
Chr1:112525049 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.501G>A (p.Gln167=) single nucleotide variant Cardiovascular phenotype [RCV002351393] Chr1:111982226 [GRCh38]
Chr1:112524848 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.669G>A (p.Ser223=) single nucleotide variant Cardiovascular phenotype [RCV002367116] Chr1:111982058 [GRCh38]
Chr1:112524680 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1110C>T (p.Tyr370=) single nucleotide variant Cardiovascular phenotype [RCV002437429] Chr1:111787103 [GRCh38]
Chr1:112329725 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.816C>T (p.Ile272=) single nucleotide variant Cardiovascular phenotype [RCV002421466] Chr1:111981911 [GRCh38]
Chr1:112524533 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.357C>T (p.Ala119=) single nucleotide variant Cardiovascular phenotype [RCV002455073] Chr1:111982370 [GRCh38]
Chr1:112524992 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.491G>A (p.Ser164Asn) single nucleotide variant Cardiovascular phenotype [RCV002351257] Chr1:111982236 [GRCh38]
Chr1:112524858 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=) single nucleotide variant Cardiovascular phenotype [RCV002415001]|Spinocerebellar ataxia type 19/22 [RCV003641042] Chr1:111776179 [GRCh38]
Chr1:112318801 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.459G>C (p.Ser153=) single nucleotide variant Cardiovascular phenotype [RCV002342341] Chr1:111982268 [GRCh38]
Chr1:112524890 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1270-20dup duplication Spinocerebellar ataxia type 19/22 [RCV002858544] Chr1:111780810..111780811 [GRCh38]
Chr1:112323432..112323433 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1588T>A (p.Ser530Thr) single nucleotide variant not provided [RCV002474312] Chr1:111777204 [GRCh38]
Chr1:112319826 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1109A>G (p.Tyr370Cys) single nucleotide variant not provided [RCV002474313] Chr1:111787104 [GRCh38]
Chr1:112329726 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.558C>T (p.Tyr186=) single nucleotide variant Cardiovascular phenotype [RCV002344800] Chr1:111982169 [GRCh38]
Chr1:112524791 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003147966] Chr1:111787075 [GRCh38]
Chr1:112329697 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=) single nucleotide variant Cardiovascular phenotype [RCV002344998]|Spinocerebellar ataxia type 19/22 [RCV003526152] Chr1:111982166 [GRCh38]
Chr1:112524788 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe) single nucleotide variant Cardiovascular phenotype [RCV002387805]|Spinocerebellar ataxia type 19/22 [RCV003095006] Chr1:111780716 [GRCh38]
Chr1:112323338 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1543A>G (p.Met515Val) single nucleotide variant Cardiovascular phenotype [RCV002403212] Chr1:111777249 [GRCh38]
Chr1:112319871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.657G>C (p.Gly219=) single nucleotide variant Cardiovascular phenotype [RCV002364500] Chr1:111982070 [GRCh38]
Chr1:112524692 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1758C>T (p.Leu586=) single nucleotide variant Cardiovascular phenotype [RCV002401625] Chr1:111777034 [GRCh38]
Chr1:112319656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.864G>A (p.Thr288=) single nucleotide variant Cardiovascular phenotype [RCV002371221] Chr1:111981863 [GRCh38]
Chr1:112524485 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.166A>G (p.Thr56Ala) single nucleotide variant Cardiovascular phenotype [RCV002403965] Chr1:111982561 [GRCh38]
Chr1:112525183 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=) single nucleotide variant Cardiovascular phenotype [RCV002380930]|Spinocerebellar ataxia type 19/22 [RCV003094945] Chr1:111780756 [GRCh38]
Chr1:112323378 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1417G>A (p.Glu473Lys) single nucleotide variant Cardiovascular phenotype [RCV002391725] Chr1:111780269 [GRCh38]
Chr1:112322891 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=) single nucleotide variant Cardiovascular phenotype [RCV002403052]|Spinocerebellar ataxia type 19/22 [RCV003526179] Chr1:111777256 [GRCh38]
Chr1:112319878 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1736A>C (p.Gln579Pro) single nucleotide variant Cardiovascular phenotype [RCV002407452] Chr1:111777056 [GRCh38]
Chr1:112319678 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1479G>T (p.Val493=) single nucleotide variant Cardiovascular phenotype [RCV002397087] Chr1:111778475 [GRCh38]
Chr1:112321097 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>T (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV002363841] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.693G>A (p.Thr231=) single nucleotide variant Cardiovascular phenotype [RCV002378137]|Spinocerebellar ataxia type 19/22 [RCV003098424] Chr1:111982034 [GRCh38]
Chr1:112524656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1378C>G (p.Pro460Ala) single nucleotide variant Cardiovascular phenotype [RCV002381091] Chr1:111780308 [GRCh38]
Chr1:112322930 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1677T>A (p.Asn559Lys) single nucleotide variant Cardiovascular phenotype [RCV002405966] Chr1:111777115 [GRCh38]
Chr1:112319737 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1071G>A (p.Ser357=) single nucleotide variant Cardiovascular phenotype [RCV002423495] Chr1:111981656 [GRCh38]
Chr1:112524278 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=) single nucleotide variant Cardiovascular phenotype [RCV002401392]|Spinocerebellar ataxia type 19/22 [RCV003774483] Chr1:111777052 [GRCh38]
Chr1:112319674 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.306G>A (p.Lys102=) single nucleotide variant Cardiovascular phenotype [RCV002444323] Chr1:111982421 [GRCh38]
Chr1:112525043 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1749G>C (p.Gln583His) single nucleotide variant Cardiovascular phenotype [RCV002401541] Chr1:111777043 [GRCh38]
Chr1:112319665 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.9C>A (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002383127] Chr1:111982718 [GRCh38]
Chr1:112525340 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1435C>A (p.Leu479Met) single nucleotide variant Cardiovascular phenotype [RCV002392161] Chr1:111780251 [GRCh38]
Chr1:112322873 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.388G>A (p.Asp130Asn) single nucleotide variant Cardiovascular phenotype [RCV002357393] Chr1:111982339 [GRCh38]
Chr1:112524961 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.696G>C (p.Ala232=) single nucleotide variant Cardiovascular phenotype [RCV002362522] Chr1:111982031 [GRCh38]
Chr1:112524653 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1622G>A (p.Gly541Asp) single nucleotide variant Cardiovascular phenotype [RCV002401090] Chr1:111777170 [GRCh38]
Chr1:112319792 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.384C>A (p.Ile128=) single nucleotide variant Cardiovascular phenotype [RCV002355468] Chr1:111982343 [GRCh38]
Chr1:112524965 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=) single nucleotide variant Cardiovascular phenotype [RCV002399114]|Spinocerebellar ataxia type 19/22 [RCV003097179] Chr1:111777067 [GRCh38]
Chr1:112319689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1366C>T (p.Leu456=) single nucleotide variant Cardiovascular phenotype [RCV002383587] Chr1:111780695 [GRCh38]
Chr1:112323317 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1501C>T (p.Arg501Ter) single nucleotide variant Cardiovascular phenotype [RCV002389944] Chr1:111778453 [GRCh38]
Chr1:112321075 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1505C>G (p.Thr502Ser) single nucleotide variant Cardiovascular phenotype [RCV002389991] Chr1:111778449 [GRCh38]
Chr1:112321071 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=) single nucleotide variant Cardiovascular phenotype [RCV002394931]|Spinocerebellar ataxia type 19/22 [RCV003097045] Chr1:111777151 [GRCh38]
Chr1:112319773 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1222C>T (p.Arg408Trp) single nucleotide variant Cardiovascular phenotype [RCV002361654] Chr1:111786991 [GRCh38]
Chr1:112329613 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.252C>T (p.Phe84=) single nucleotide variant Cardiovascular phenotype [RCV002433125] Chr1:111982475 [GRCh38]
Chr1:112525097 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.681C>T (p.Phe227=) single nucleotide variant Cardiovascular phenotype [RCV002369577] Chr1:111982046 [GRCh38]
Chr1:112524668 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.295C>T (p.Arg99Cys) single nucleotide variant Cardiovascular phenotype [RCV002441966] Chr1:111982432 [GRCh38]
Chr1:112525054 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.210G>A (p.Glu70=) single nucleotide variant Cardiovascular phenotype [RCV002424382] Chr1:111982517 [GRCh38]
Chr1:112525139 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys) single nucleotide variant Cardiovascular phenotype [RCV002406227]|Spinocerebellar ataxia type 19/22 [RCV003100793]|not provided [RCV003482410] Chr1:111777096 [GRCh38]
Chr1:112319718 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.336T>C (p.Ser112=) single nucleotide variant Cardiovascular phenotype [RCV002451732] Chr1:111982391 [GRCh38]
Chr1:112525013 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp) single nucleotide variant Cardiovascular phenotype [RCV002407966]|not provided [RCV002473380] Chr1:111776157 [GRCh38]
Chr1:112318779 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.303G>C (p.Gly101=) single nucleotide variant Cardiovascular phenotype [RCV002443993] Chr1:111982424 [GRCh38]
Chr1:112525046 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.279C>T (p.Cys93=) single nucleotide variant Cardiovascular phenotype [RCV002441504] Chr1:111982448 [GRCh38]
Chr1:112525070 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.345C>T (p.Asp115=) single nucleotide variant Cardiovascular phenotype [RCV002337471] Chr1:111982382 [GRCh38]
Chr1:112525004 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.504C>A (p.Thr168=) single nucleotide variant Cardiovascular phenotype [RCV002335709] Chr1:111982223 [GRCh38]
Chr1:112524845 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372-4C>T single nucleotide variant Cardiovascular phenotype [RCV002383724]|Spinocerebellar ataxia type 19/22 [RCV003095048] Chr1:111780318 [GRCh38]
Chr1:112322940 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.648G>T (p.Leu216=) single nucleotide variant Cardiovascular phenotype [RCV002356245] Chr1:111982079 [GRCh38]
Chr1:112524701 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1223G>A (p.Arg408Gln) single nucleotide variant Cardiovascular phenotype [RCV002361910]|not provided [RCV003313275] Chr1:111786990 [GRCh38]
Chr1:112329612 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=) single nucleotide variant Cardiovascular phenotype [RCV002410705]|Spinocerebellar ataxia type 19/22 [RCV003097356]|not provided [RCV002473381] Chr1:111776125 [GRCh38]
Chr1:112318747 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.618G>C (p.Pro206=) single nucleotide variant Cardiovascular phenotype [RCV002353816] Chr1:111982109 [GRCh38]
Chr1:112524731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=) single nucleotide variant Cardiovascular phenotype [RCV002406064]|Spinocerebellar ataxia type 19/22 [RCV003097111] Chr1:111777109 [GRCh38]
Chr1:112319731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.930G>T (p.Leu310=) single nucleotide variant Cardiovascular phenotype [RCV002371575] Chr1:111981797 [GRCh38]
Chr1:112524419 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.646C>A (p.Leu216Met) single nucleotide variant Cardiovascular phenotype [RCV002361941] Chr1:111982081 [GRCh38]
Chr1:112524703 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1897C>A (p.Pro633Thr) single nucleotide variant Cardiovascular phenotype [RCV002408133] Chr1:111776148 [GRCh38]
Chr1:112318770 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.539C>T (p.Thr180Met) single nucleotide variant Cardiovascular phenotype [RCV002347230] Chr1:111982188 [GRCh38]
Chr1:112524810 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.18G>A (p.Ala6=) single nucleotide variant Cardiovascular phenotype [RCV002408232]|KCND3-related condition [RCV003896181]|Spinocerebellar ataxia type 19/22 [RCV003526189] Chr1:111982709 [GRCh38]
Chr1:112525331 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.520G>A (p.Glu174Lys) single nucleotide variant Cardiovascular phenotype [RCV002344262] Chr1:111982207 [GRCh38]
Chr1:112524829 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1615C>A (p.His539Asn) single nucleotide variant Cardiovascular phenotype [RCV002400962] Chr1:111777177 [GRCh38]
Chr1:112319799 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1506C>A (p.Thr502=) single nucleotide variant Cardiovascular phenotype [RCV002390001] Chr1:111778448 [GRCh38]
Chr1:112321070 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.453C>T (p.Asn151=) single nucleotide variant Cardiovascular phenotype [RCV002340088] Chr1:111982274 [GRCh38]
Chr1:112524896 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1797C>T (p.Asp599=) single nucleotide variant Cardiovascular phenotype [RCV002407807] Chr1:111776248 [GRCh38]
Chr1:112318870 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1895C>G (p.Pro632Arg) single nucleotide variant Cardiovascular phenotype [RCV002408091] Chr1:111776150 [GRCh38]
Chr1:112318772 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met) single nucleotide variant Cardiovascular phenotype [RCV002410650]|Spinocerebellar ataxia type 19/22 [RCV003526190] Chr1:111776126 [GRCh38]
Chr1:112318748 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.981C>G (p.Ser327=) single nucleotide variant Cardiovascular phenotype [RCV002376829] Chr1:111981746 [GRCh38]
Chr1:112524368 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.159C>G (p.Thr53=) single nucleotide variant Cardiovascular phenotype [RCV002398597] Chr1:111982568 [GRCh38]
Chr1:112525190 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=) single nucleotide variant Cardiovascular phenotype [RCV002405406]|Spinocerebellar ataxia type 19/22 [RCV003096937] Chr1:111777232 [GRCh38]
Chr1:112319854 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1561A>G (p.Met521Val) single nucleotide variant Cardiovascular phenotype [RCV002405422] Chr1:111777231 [GRCh38]
Chr1:112319853 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.411G>A (p.Lys137=) single nucleotide variant Cardiovascular phenotype [RCV002323483] Chr1:111982316 [GRCh38]
Chr1:112524938 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.612G>C (p.Thr204=) single nucleotide variant Cardiovascular phenotype [RCV002360335] Chr1:111982115 [GRCh38]
Chr1:112524737 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.647T>G (p.Leu216Arg) single nucleotide variant Cardiovascular phenotype [RCV002356205]|not provided [RCV003164538] Chr1:111982080 [GRCh38]
Chr1:112524702 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.579C>T (p.Ile193=) single nucleotide variant Cardiovascular phenotype [RCV002359807] Chr1:111982148 [GRCh38]
Chr1:112524770 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1660A>T (p.Thr554Ser) single nucleotide variant Cardiovascular phenotype [RCV002395093] Chr1:111777132 [GRCh38]
Chr1:112319754 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1536T>G (p.Asp512Glu) single nucleotide variant Cardiovascular phenotype [RCV002403054] Chr1:111777256 [GRCh38]
Chr1:112319878 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.93G>A (p.Pro31=) single nucleotide variant Cardiovascular phenotype [RCV002373918] Chr1:111982634 [GRCh38]
Chr1:112525256 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.497G>A (p.Arg166His) single nucleotide variant Cardiovascular phenotype [RCV002342895] Chr1:111982230 [GRCh38]
Chr1:112524852 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1854C>A (p.Pro618=) single nucleotide variant Cardiovascular phenotype [RCV002413068] Chr1:111776191 [GRCh38]
Chr1:112318813 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1942A>G (p.Asn648Asp) single nucleotide variant Cardiovascular phenotype [RCV002413197] Chr1:111776103 [GRCh38]
Chr1:112318725 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.582T>C (p.Ala194=) single nucleotide variant Cardiovascular phenotype [RCV002353231] Chr1:111982145 [GRCh38]
Chr1:112524767 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.654C>T (p.Cys218=) single nucleotide variant Cardiovascular phenotype [RCV002364350] Chr1:111982073 [GRCh38]
Chr1:112524695 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=) single nucleotide variant Cardiovascular phenotype [RCV002410227]|Spinocerebellar ataxia type 19/22 [RCV003108091] Chr1:111981665 [GRCh38]
Chr1:112524287 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.430G>C (p.Ala144Pro) single nucleotide variant Cardiovascular phenotype [RCV002331961] Chr1:111982297 [GRCh38]
Chr1:112524919 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.588G>A (p.Ser196=) single nucleotide variant Cardiovascular phenotype [RCV002353574] Chr1:111982139 [GRCh38]
Chr1:112524761 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002815986] Chr1:111982161 [GRCh38]
Chr1:112524783 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-6T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003017178] Chr1:111780320 [GRCh38]
Chr1:112322942 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002842589] Chr1:111777100 [GRCh38]
Chr1:112319722 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1795G>A (p.Asp599Asn) single nucleotide variant Inborn genetic diseases [RCV002974769] Chr1:111776250 [GRCh38]
Chr1:112318872 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002617665] Chr1:111981677 [GRCh38]
Chr1:112524299 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1461+9C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002760993] Chr1:111780216 [GRCh38]
Chr1:112322838 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1514T>A (p.Ile505Asn) single nucleotide variant Inborn genetic diseases [RCV002782288] Chr1:111778440 [GRCh38]
Chr1:112321062 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002761010] Chr1:111780302 [GRCh38]
Chr1:112322924 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002913540] Chr1:111777205 [GRCh38]
Chr1:112319827 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1329C>T (p.His443=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003077776] Chr1:111780732 [GRCh38]
Chr1:112323354 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.87G>A (p.Leu29=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003035890] Chr1:111982640 [GRCh38]
Chr1:112525262 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+15G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002761611] Chr1:111981606 [GRCh38]
Chr1:112524228 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002828728] Chr1:111777038 [GRCh38]
Chr1:112319660 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-14T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003007430] Chr1:111780328 [GRCh38]
Chr1:112322950 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1767-17A>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003081932] Chr1:111776295 [GRCh38]
Chr1:112318917 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003083755] Chr1:111787019 [GRCh38]
Chr1:112329641 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-16G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002575009] Chr1:111778508 [GRCh38]
Chr1:112321130 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+11G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002890323] Chr1:111981610 [GRCh38]
Chr1:112524232 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002917693] Chr1:111982218 [GRCh38]
Chr1:112524840 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1950C>A (p.Val650=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002876125] Chr1:111776095 [GRCh38]
Chr1:112318717 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-17_1519-15del deletion Spinocerebellar ataxia type 19/22 [RCV002629972] Chr1:111777288..111777290 [GRCh38]
Chr1:112319910..112319912 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003091840] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.84C>T (p.Pro28=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002651544] Chr1:111982643 [GRCh38]
Chr1:112525265 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003045564] Chr1:111780709 [GRCh38]
Chr1:112323331 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1462-4G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003045582] Chr1:111778496 [GRCh38]
Chr1:112321118 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1434C>T (p.His478=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002900465] Chr1:111780252 [GRCh38]
Chr1:112322874 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1767-4C>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003061169] Chr1:111776282 [GRCh38]
Chr1:112318904 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1197C>T (p.Val399=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003089259] Chr1:111787016 [GRCh38]
Chr1:112329638 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003047240] Chr1:111777077 [GRCh38]
Chr1:112319699 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+12del deletion Spinocerebellar ataxia type 19/22 [RCV002653656] Chr1:111778424 [GRCh38]
Chr1:112321046 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002607536] Chr1:111780710 [GRCh38]
Chr1:112323332 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1371+4G>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002654739] Chr1:111780686 [GRCh38]
Chr1:112323308 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.399C>G (p.Tyr133Ter) single nucleotide variant not provided [RCV003218882] Chr1:111982328 [GRCh38]
Chr1:112524950 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1299C>G (p.Ala433=) single nucleotide variant Cardiovascular phenotype [RCV003176664] Chr1:111780762 [GRCh38]
Chr1:112323384 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.170C>T (p.Thr57Met) single nucleotide variant Cardiovascular phenotype [RCV003176659] Chr1:111982557 [GRCh38]
Chr1:112525179 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.918C>G (p.Gly306=) single nucleotide variant Cardiovascular phenotype [RCV003176661] Chr1:111981809 [GRCh38]
Chr1:112524431 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1673C>G (p.Pro558Arg) single nucleotide variant Cardiovascular phenotype [RCV003176662] Chr1:111777119 [GRCh38]
Chr1:112319741 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.178C>T (p.Arg60Cys) single nucleotide variant Cardiovascular phenotype [RCV003176663] Chr1:111982549 [GRCh38]
Chr1:112525171 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.448G>T (p.Asp150Tyr) single nucleotide variant not provided [RCV003221604] Chr1:111982279 [GRCh38]
Chr1:112524901 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1485_1503del (p.Asp495fs) deletion Cardiovascular phenotype [RCV003168058] Chr1:111778451..111778469 [GRCh38]
Chr1:112321073..112321091 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.506T>C (p.Met169Thr) single nucleotide variant Cardiovascular phenotype [RCV003168059] Chr1:111982221 [GRCh38]
Chr1:112524843 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.780C>T (p.Ser260=) single nucleotide variant Cardiovascular phenotype [RCV003168060] Chr1:111981947 [GRCh38]
Chr1:112524569 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.59T>A (p.Met20Lys) single nucleotide variant Cardiovascular phenotype [RCV003168061] Chr1:111982668 [GRCh38]
Chr1:112525290 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1733T>C (p.Ile578Thr) single nucleotide variant Cardiovascular phenotype [RCV003168062] Chr1:111777059 [GRCh38]
Chr1:112319681 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1442A>G (p.His481Arg) single nucleotide variant Cardiovascular phenotype [RCV003168063] Chr1:111780244 [GRCh38]
Chr1:112322866 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.630C>A (p.Val210=) single nucleotide variant Cardiovascular phenotype [RCV003168064] Chr1:111982097 [GRCh38]
Chr1:112524719 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1674C>A (p.Pro558=) single nucleotide variant Cardiovascular phenotype [RCV003168065] Chr1:111777118 [GRCh38]
Chr1:112319740 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys) single nucleotide variant Cardiovascular phenotype [RCV003305415]|Spinocerebellar ataxia type 19/22 [RCV003525384] Chr1:111777228 [GRCh38]
Chr1:112319850 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003333268] Chr1:111787084 [GRCh38]
Chr1:112329706 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.1107-5C>A single nucleotide variant Cardiovascular phenotype [RCV003379952] Chr1:111787111 [GRCh38]
Chr1:112329733 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.533C>T (p.Thr178Ile) single nucleotide variant Cardiovascular phenotype [RCV003379953] Chr1:111982194 [GRCh38]
Chr1:112524816 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.811T>G (p.Tyr271Asp) single nucleotide variant not provided [RCV003332545] Chr1:111981916 [GRCh38]
Chr1:112524538 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1201G>A (p.Val401Met) single nucleotide variant not provided [RCV003332454] Chr1:111787012 [GRCh38]
Chr1:112329634 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.385G>A (p.Gly129Arg) single nucleotide variant Cardiovascular phenotype [RCV003379950] Chr1:111982342 [GRCh38]
Chr1:112524964 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1762A>G (p.Thr588Ala) single nucleotide variant Cardiovascular phenotype [RCV003379951] Chr1:111777030 [GRCh38]
Chr1:112319652 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile) single nucleotide variant Brugada syndrome 9 [RCV003458260]|Spinocerebellar ataxia type 19/22 [RCV003455827] Chr1:111776189 [GRCh38]
Chr1:112318811 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1094T>C (p.Met365Thr) single nucleotide variant not provided [RCV003482742] Chr1:111981633 [GRCh38]
Chr1:112524255 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.980C>T (p.Ser327Phe) single nucleotide variant not provided [RCV003482743] Chr1:111981747 [GRCh38]
Chr1:112524369 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+17A>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003872619] Chr1:111778419 [GRCh38]
Chr1:112321041 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
NM_001378969.1(KCND3):c.165G>T (p.Arg55Ser) single nucleotide variant not provided [RCV003487950] Chr1:111982562 [GRCh38]
Chr1:112525184 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003388423] Chr1:111981879 [GRCh38]
Chr1:112524501 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg) duplication Spinocerebellar ataxia type 19/22 [RCV003389358] Chr1:111981841..111981842 [GRCh38]
Chr1:112524463..112524464 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.431C>T (p.Ala144Val) single nucleotide variant not provided [RCV003443690] Chr1:111982296 [GRCh38]
Chr1:112524918 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107-21_1107-20del deletion Spinocerebellar ataxia type 19/22 [RCV003527406] Chr1:111787126..111787127 [GRCh38]
Chr1:112329748..112329749 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527316] Chr1:111777091 [GRCh38]
Chr1:112319713 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525835] Chr1:111787055 [GRCh38]
Chr1:112329677 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003526706] Chr1:111981629 [GRCh38]
Chr1:112524251 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371+19T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525507] Chr1:111780671 [GRCh38]
Chr1:112323293 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525615] Chr1:111777248 [GRCh38]
Chr1:112319870 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527049] Chr1:111981674 [GRCh38]
Chr1:112524296 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527133] Chr1:111787082 [GRCh38]
Chr1:112329704 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527432] Chr1:111780692 [GRCh38]
Chr1:112323314 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527483] Chr1:111776216 [GRCh38]
Chr1:112318838 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-17T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003526303] Chr1:111780331 [GRCh38]
Chr1:112322953 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525433] Chr1:111780280 [GRCh38]
Chr1:112322902 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003851023] Chr1:111981687 [GRCh38]
Chr1:112524309 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640795] Chr1:111780273 [GRCh38]
Chr1:112322895 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641426] Chr1:111982042 [GRCh38]
Chr1:112524664 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641866] Chr1:111780737 [GRCh38]
Chr1:112323359 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1461+7C>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641143] Chr1:111780218 [GRCh38]
Chr1:112322840 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641961] Chr1:111776242 [GRCh38]
Chr1:112318864 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642238] Chr1:111981988 [GRCh38]
Chr1:112524610 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642257] Chr1:111982059 [GRCh38]
Chr1:112524681 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.186G>C (p.Pro62=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640815] Chr1:111982541 [GRCh38]
Chr1:112525163 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640860] Chr1:111780314 [GRCh38]
Chr1:112322936 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641178] Chr1:111777049 [GRCh38]
Chr1:112319671 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.486G>A (p.Ser162=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641987] Chr1:111982241 [GRCh38]
Chr1:112524863 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.159C>T (p.Thr53=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642239] Chr1:111982568 [GRCh38]
Chr1:112525190 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641133] Chr1:111780245 [GRCh38]
Chr1:112322867 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641797] Chr1:111776180 [GRCh38]
Chr1:112318802 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.714C>A (p.Thr238=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641221] Chr1:111982013 [GRCh38]
Chr1:112524635 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641259] Chr1:111982509 [GRCh38]
Chr1:112525131 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003822525] Chr1:111982207 [GRCh38]
Chr1:112524829 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.663C>T (p.Arg221=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641573] Chr1:111982064 [GRCh38]
Chr1:112524686 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1389G>A (p.Glu463=) single nucleotide variant KCND3-related condition [RCV003968966] Chr1:111780297 [GRCh38]
Chr1:112322919 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1125T>C (p.Pro375=) single nucleotide variant Cardiovascular phenotype [RCV003379954] Chr1:111787088 [GRCh38]
Chr1:112329710 [GRCh37]
Chr1:1p13.2		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR449Chsa-miR-449c-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3396
Count of miRNA genes:1210
Interacting mature miRNAs:1548
Transcripts:ENST00000302127, ENST00000315987, ENST00000369697
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.

Markers in Region
D1S502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,911 - 112,508,168UniSTSGRCh37
GRCh371112,508,005 - 112,508,139UniSTSGRCh37
Build 361112,309,434 - 112,309,691RGDNCBI36
Celera1110,754,611 - 110,754,745UniSTS
Celera1110,754,517 - 110,754,774RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,326 - 110,379,613UniSTS
HuRef1110,379,420 - 110,379,584UniSTS
Marshfield Genetic Map1146.53RGD
Genethon Genetic Map1151.2UniSTS
TNG Radiation Hybrid Map160982.0UniSTS
GeneMap99-G3 RH Map15172.0UniSTS
D1S187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,360,629 - 112,360,723UniSTSGRCh37
Build 361112,162,152 - 112,162,246RGDNCBI36
Celera1110,607,229 - 110,607,323RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,232,013 - 110,232,107UniSTS
Marshfield Genetic Map1145.45UniSTS
Marshfield Genetic Map1145.45RGD
deCODE Assembly Map1133.37UniSTS
AL009441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,438,409 - 112,438,534UniSTSGRCh37
Build 361112,239,932 - 112,240,057RGDNCBI36
Celera1110,685,015 - 110,685,140RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,309,823 - 110,309,948UniSTS
D1S3009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,388,992 - 112,389,155UniSTSGRCh37
Build 361112,190,515 - 112,190,678RGDNCBI36
Celera1110,635,593 - 110,635,756RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,260,392 - 110,260,564UniSTS
Whitehead-RH Map1402.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL033924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,416,713 - 112,416,833UniSTSGRCh37
Build 361112,218,236 - 112,218,356RGDNCBI36
Celera1110,663,320 - 110,663,440RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,288,126 - 110,288,246UniSTS
SHGC-84861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,417,647 - 112,417,935UniSTSGRCh37
Build 361112,219,170 - 112,219,458RGDNCBI36
Celera1110,664,254 - 110,664,542RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,289,060 - 110,289,348UniSTS
TNG Radiation Hybrid Map161021.0UniSTS
RH121515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,417,724 - 112,418,007UniSTSGRCh37
Build 361112,219,247 - 112,219,530RGDNCBI36
Celera1110,664,331 - 110,664,614RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,289,137 - 110,289,420UniSTS
TNG Radiation Hybrid Map161016.0UniSTS
M98989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,994 - 112,508,133UniSTSGRCh37
Build 361112,309,517 - 112,309,656RGDNCBI36
Celera1110,754,600 - 110,754,739RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,409 - 110,379,578UniSTS
D1S175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,994 - 112,508,133UniSTSGRCh37
Build 361112,309,517 - 112,309,656RGDNCBI36
Celera1110,754,600 - 110,754,739RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,409 - 110,379,578UniSTS
D1S3047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,389,012 - 112,389,155UniSTSGRCh37
Build 361112,190,535 - 112,190,678RGDNCBI36
Celera1110,635,613 - 110,635,756RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,260,412 - 110,260,564UniSTS
SHGC-144251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,505,677 - 112,505,968UniSTSGRCh37
Build 361112,307,200 - 112,307,491RGDNCBI36
Celera1110,752,283 - 110,752,574RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,377,097 - 110,377,388UniSTS
TNG Radiation Hybrid Map160977.0UniSTS
AL009679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,723 - 112,507,846UniSTSGRCh37
Build 361112,309,246 - 112,309,369RGDNCBI36
Celera1110,754,329 - 110,754,452RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,138 - 110,379,261UniSTS
KCND3_2907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,318,359 - 112,318,928UniSTSGRCh37
Build 361112,119,882 - 112,120,451RGDNCBI36
Celera1110,564,979 - 110,565,548RGD
HuRef1110,189,761 - 110,190,330UniSTS
D1S3159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,369,482 - 112,369,620UniSTSGRCh37
Build 361112,171,005 - 112,171,143RGDNCBI36
Celera1110,616,082 - 110,616,220RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,240,866 - 110,241,004UniSTS
Stanford-G3 RH Map15262.0UniSTS
NCBI RH Map1803.2UniSTS
AL009644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,367,824 - 112,367,986UniSTSGRCh37
Build 361112,169,347 - 112,169,509RGDNCBI36
Celera1110,614,424 - 110,614,586RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,239,208 - 110,239,370UniSTS
G16221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,432,729 - 112,432,864UniSTSGRCh37
Build 361112,234,252 - 112,234,387RGDNCBI36
Celera1110,679,335 - 110,679,470RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,304,141 - 110,304,276UniSTS
AL009944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,398,020 - 112,398,150UniSTSGRCh37
Build 361112,199,543 - 112,199,673RGDNCBI36
Celera1110,644,621 - 110,644,751RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,269,427 - 110,269,557UniSTS
D1S187  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
D1S502  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
Marshfield Genetic Map1146.53UniSTS
Genethon Genetic Map1151.2UniSTS


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 874 614 97 50 42 50 566 633 1729 20 287 53 2 84 473
Low 1418 1585 1523 517 501 358 3514 1457 1932 273 909 1384 164 1 1120 2290 1
Below cutoff 106 771 91 47 1047 47 256 97 68 92 237 134 6 25 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF048712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF048713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF120491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH015914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY863198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302127   ⟹   ENSP00000306923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)Ensembl
RefSeq Acc Id: ENST00000315987   ⟹   ENSP00000319591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,775,809 - 111,989,155 (-)Ensembl
RefSeq Acc Id: ENST00000369697   ⟹   ENSP00000358711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,770,662 - 111,982,796 (-)Ensembl
RefSeq Acc Id: ENST00000703640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,776,819 - 111,782,751 (-)Ensembl
RefSeq Acc Id: ENST00000703641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,837,028 - 111,989,174 (-)Ensembl
RefSeq Acc Id: ENST00000703642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,839,565 - 111,989,168 (-)Ensembl
RefSeq Acc Id: ENST00000703643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,972,650 - 111,989,165 (-)Ensembl
RefSeq Acc Id: NM_001378969   ⟹   NP_001365898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,668 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378970   ⟹   NP_001365899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,668 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004980   ⟹   NP_004971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
GRCh371112,318,444 - 112,532,147 (-)NCBI
Build 361112,119,977 - 112,333,300 (-)NCBI Archive
HuRef1110,189,856 - 110,403,378 (-)ENTREZGENE
CHM1_11112,433,439 - 112,646,758 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,088 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172198   ⟹   NP_751948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
GRCh371112,318,444 - 112,532,147 (-)NCBI
Build 361112,119,977 - 112,333,300 (-)NCBI Archive
HuRef1110,189,856 - 110,403,378 (-)ENTREZGENE
CHM1_11112,433,439 - 112,646,758 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,088 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710629   ⟹   XP_006710692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710632   ⟹   XP_006710695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,895,544 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541425   ⟹   XP_011539727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,972,631 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541426   ⟹   XP_011539728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,960,136 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541427   ⟹   XP_011539729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,822,080 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541428   ⟹   XP_011539730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,932,630 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001244   ⟹   XP_016856733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001245   ⟹   XP_016856734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,972,631 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336461   ⟹   XP_054192436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,785,561 - 112,004,274 (-)NCBI
RefSeq Acc Id: XM_054336462   ⟹   XP_054192437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,785,561 - 112,004,154 (-)NCBI
RefSeq Acc Id: XM_054336463   ⟹   XP_054192438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,986,206 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336464   ⟹   XP_054192439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,986,206 - 112,003,931 (-)NCBI
RefSeq Acc Id: XM_054336465   ⟹   XP_054192440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,975,025 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336466   ⟹   XP_054192441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,910,451 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336467   ⟹   XP_054192442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,822,596 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336468   ⟹   XP_054192443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,931,824 - 112,004,582 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001365898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365899 (Get FASTA)   NCBI Sequence Viewer  
  NP_004971 (Get FASTA)   NCBI Sequence Viewer  
  NP_751948 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710692 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710695 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539727 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539728 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539729 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539730 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856733 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192443 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC05121 (Get FASTA)   NCBI Sequence Viewer  
  AAC05122 (Get FASTA)   NCBI Sequence Viewer  
  AAD38898 (Get FASTA)   NCBI Sequence Viewer  
  AAF01044 (Get FASTA)   NCBI Sequence Viewer  
  AAF01045 (Get FASTA)   NCBI Sequence Viewer  
  AAF20924 (Get FASTA)   NCBI Sequence Viewer  
  AAF20925 (Get FASTA)   NCBI Sequence Viewer  
  AAF68177 (Get FASTA)   NCBI Sequence Viewer  
  AAF68178 (Get FASTA)   NCBI Sequence Viewer  
  AAI13476 (Get FASTA)   NCBI Sequence Viewer  
  AAI13478 (Get FASTA)   NCBI Sequence Viewer  
  AAI43391 (Get FASTA)   NCBI Sequence Viewer  
  AAX58111 (Get FASTA)   NCBI Sequence Viewer  
  EAW56510 (Get FASTA)   NCBI Sequence Viewer  
  EAW56511 (Get FASTA)   NCBI Sequence Viewer  
  EAW56512 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000306923
  ENSP00000306923.4
  ENSP00000319591
  ENSP00000319591.2
  ENSP00000358711
  ENSP00000358711.1
GenBank Protein Q9UK17 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_751948   ⟸   NM_172198
- Peptide Label: isoform 2 precursor
- UniProtKB: B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004971   ⟸   NM_004980
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   Q9UK17 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710692   ⟸   XM_006710629
- Peptide Label: isoform X1
- UniProtKB: Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   Q9UK17 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710695   ⟸   XM_006710632
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011539729   ⟸   XM_011541427
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011539730   ⟸   XM_011541428
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011539728   ⟸   XM_011541426
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011539727   ⟸   XM_011541425
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016856733   ⟸   XM_017001244
- Peptide Label: isoform X1
- UniProtKB: Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   Q9UK17 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856734   ⟸   XM_017001245
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001365899   ⟸   NM_001378970
- Peptide Label: isoform 2 precursor
- UniProtKB: B7ZKV0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365898   ⟸   NM_001378969
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UK17 (UniProtKB/Swiss-Prot),   Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000319591   ⟸   ENST00000315987
RefSeq Acc Id: ENSP00000358711   ⟸   ENST00000369697
RefSeq Acc Id: ENSP00000306923   ⟸   ENST00000302127
RefSeq Acc Id: XP_054192436   ⟸   XM_054336461
- Peptide Label: isoform X1
- UniProtKB: Q9UK17 (UniProtKB/Swiss-Prot),   Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192437   ⟸   XM_054336462
- Peptide Label: isoform X1
- UniProtKB: Q9UK17 (UniProtKB/Swiss-Prot),   Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192442   ⟸   XM_054336467
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054192441   ⟸   XM_054336466
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054192443   ⟸   XM_054336468
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054192440   ⟸   XM_054336465
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054192438   ⟸   XM_054336463
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054192439   ⟸   XM_054336464
- Peptide Label: isoform X2
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK17-F1-model_v2 AlphaFold Q9UK17 1-655 view protein structure

Promoters
RGD ID:6856634
Promoter ID:EPDNEW_H1482
Type:initiation region
Name:KCND3_2
Description:potassium voltage-gated channel subfamily D member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1483  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,989,174 - 111,989,234EPDNEW
RGD ID:6856636
Promoter ID:EPDNEW_H1483
Type:initiation region
Name:KCND3_1
Description:potassium voltage-gated channel subfamily D member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1482  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,989,647 - 111,989,707EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6239 AgrOrtholog
COSMIC KCND3 COSMIC
Ensembl Genes ENSG00000171385 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302127 ENTREZGENE
  ENST00000302127.5 UniProtKB/Swiss-Prot
  ENST00000315987 ENTREZGENE
  ENST00000315987.6 UniProtKB/Swiss-Prot
  ENST00000369697 ENTREZGENE
  ENST00000369697.5 UniProtKB/Swiss-Prot
  ENST00000703643 ENTREZGENE
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171385 GTEx
HGNC ID HGNC:6239 ENTREZGENE
Human Proteome Map KCND3 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_Kv4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv4.3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Shal-type_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3752 UniProtKB/Swiss-Prot
NCBI Gene 3752 ENTREZGENE
OMIM 605411 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY D MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Shal-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCND3 RGD, PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV43CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHALCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6QL42_HUMAN UniProtKB/TrEMBL
  B7ZKV0 ENTREZGENE, UniProtKB/TrEMBL
  KCND3_HUMAN UniProtKB/Swiss-Prot
  O60576 ENTREZGENE
  O60577 ENTREZGENE
  Q14D71 ENTREZGENE
  Q5T0M0 ENTREZGENE
  Q9UH85 ENTREZGENE
  Q9UH86 ENTREZGENE
  Q9UK16 ENTREZGENE
  Q9UK17 ENTREZGENE
UniProt Secondary O60576 UniProtKB/Swiss-Prot
  O60577 UniProtKB/Swiss-Prot
  Q14D71 UniProtKB/Swiss-Prot
  Q5T0M0 UniProtKB/Swiss-Prot
  Q9UH85 UniProtKB/Swiss-Prot
  Q9UH86 UniProtKB/Swiss-Prot
  Q9UK16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 KCND3  potassium voltage-gated channel subfamily D member 3  SCA22  spinocerebellar ataxia 22  Data merged from RGD:1342705 737654 PROVISIONAL
2016-03-22 KCND3  potassium voltage-gated channel subfamily D member 3  SCA19  spinocerebellar ataxia 19  Data merged from RGD:1349872 737654 PROVISIONAL
2016-02-10 KCND3  potassium voltage-gated channel subfamily D member 3  KCND3  potassium channel, voltage gated Shal related subfamily D, member 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCND3  potassium channel, voltage gated Shal related subfamily D, member 3  KCND3  potassium voltage-gated channel, Shal-related subfamily, member 3  Symbol and/or name change 5135510 APPROVED