CACNA1B (calcium voltage-gated channel subunit alpha1 B) - Rat Genome Database

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Gene: CACNA1B (calcium voltage-gated channel subunit alpha1 B) Homo sapiens
Analyze
Symbol: CACNA1B
Name: calcium voltage-gated channel subunit alpha1 B
RGD ID: 1347795
HGNC Page HGNC
Description: Enables high voltage-gated calcium channel activity and protein C-terminus binding activity. Involved in modulation of chemical synaptic transmission and response to amyloid-beta. Predicted to be located in dendrite; membrane; and neuronal cell body. Predicted to be part of voltage-gated calcium channel complex. Predicted to be active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Implicated in Lambert-Eaton myasthenic syndrome and dystonia 23. Biomarker of multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BIII; brain calcium channel III; CACNL1A5; CACNN; calcium channel alpha12.2 subunit; calcium channel, L type, alpha-1 polypeptide; calcium channel, N type; calcium channel, voltage-dependent, alpha 1B subunit, N type; calcium channel, voltage-dependent, L type, alpha 1B subunit; calcium channel, voltage-dependent, N type, alpha 1B subunit; Cav2.2; Cav2.2 voltage-gated Ca2+ channel; DYT23; NEDNEH; voltage-dependent N-type calcium channel subunit alpha-1B; voltage-gated calcium channel alpha subunit Cav2.2; voltage-gated calcium channel subunit alpha Cav2.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9137,877,782 - 138,124,624 (+)EnsemblGRCh38hg38GRCh38
GRCh389137,877,782 - 138,124,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379140,772,234 - 141,019,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,892,062 - 140,136,449 (+)NCBINCBI36hg18NCBI36
Build 349138,048,077 - 138,292,468NCBI
Cytogenetic Map9q34.3NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBIHuRef
CHM1_19140,920,972 - 141,166,813 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1321501   PMID:8684604   PMID:8750830   PMID:8825650   PMID:9030575   PMID:9238069   PMID:10455105   PMID:11130074   PMID:11395521   PMID:11438518   PMID:12018859   PMID:12161429  
PMID:12177192   PMID:12414690   PMID:12435810   PMID:12477932   PMID:12665800   PMID:14602720   PMID:14684825   PMID:15166237   PMID:15607937   PMID:15728831   PMID:15953418   PMID:16382099  
PMID:16627564   PMID:16857708   PMID:17081983   PMID:18958281   PMID:19065143   PMID:20195357   PMID:20379614   PMID:20489179   PMID:21057379   PMID:21166801   PMID:21873635   PMID:22491326  
PMID:22590648   PMID:22613715   PMID:23376566   PMID:24566975   PMID:25225550   PMID:25296916   PMID:25483588   PMID:26157024   PMID:26218636   PMID:26507659   PMID:26511252   PMID:26514267  
PMID:28127114   PMID:28330839   PMID:28603497   PMID:29208674   PMID:29448101   PMID:30982612   PMID:31343991   PMID:33051750   PMID:34234349  


Genomics

Comparative Map Data
CACNA1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9137,877,782 - 138,124,624 (+)EnsemblGRCh38hg38GRCh38
GRCh389137,877,782 - 138,124,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379140,772,234 - 141,019,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,892,062 - 140,136,449 (+)NCBINCBI36hg18NCBI36
Build 349138,048,077 - 138,292,468NCBI
Cytogenetic Map9q34.3NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBIHuRef
CHM1_19140,920,972 - 141,166,813 (+)NCBICHM1_1
Cacna1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39224,493,872 - 24,653,210 (-)NCBIGRCm39mm39
GRCm39 Ensembl224,493,899 - 24,653,164 (-)Ensembl
GRCm38224,603,860 - 24,763,200 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl224,603,887 - 24,763,152 (-)EnsemblGRCm38mm10GRCm38
MGSCv37224,461,895 - 24,618,672 (-)NCBIGRCm37mm9NCBIm37
MGSCv36224,428,384 - 24,585,161 (-)NCBImm8
Celera224,325,634 - 24,485,472 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map216.58NCBI
Cacna1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.237,380,892 - 7,546,104 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl37,380,922 - 7,546,091 (-)Ensembl
Rnor_6.031,740,026 - 1,924,959 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl31,740,024 - 1,924,827 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.031,727,915 - 1,910,475 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.432,842,948 - 3,039,747 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.132,873,390 - 3,039,747 (-)NCBI
Celera32,215,805 - 2,379,072 (-)NCBICelera
Cytogenetic Map3p13NCBI
Cacna1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,654,238 - 5,824,386 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,654,915 - 5,823,094 (+)NCBIChiLan1.0ChiLan1.0
CACNA1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19137,935,165 - 138,147,969 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v09108,989,621 - 109,256,841 (+)NCBIMhudiblu_PPA_v0panPan3
CACNA1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,813,625 - 48,009,532 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,816,393 - 48,009,406 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,000,692 - 47,196,388 (-)NCBI
ROS_Cfam_1.0948,674,418 - 48,870,501 (-)NCBI
UMICH_Zoey_3.1947,454,379 - 47,647,489 (-)NCBI
UNSW_CanFamBas_1.0947,750,936 - 47,946,938 (-)NCBI
UU_Cfam_GSD_1.0947,799,821 - 47,993,105 (-)NCBI
Cacna1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947203,066,422 - 203,243,631 (+)NCBI
SpeTri2.0NW_004936669133,488 - 308,623 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACNA1B
(Sus scrofa - pig)
No map positions available.
CACNA1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11275,441 - 335,980 (-)NCBI
ChlSab1.1 Ensembl1278,011 - 335,820 (-)Ensembl
Vero_WHO_p1.0NW_0236660585,057,291 - 5,305,921 (+)NCBI
Cacna1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476078,754 - 257,901 (-)NCBI

Position Markers
D9S2168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,017,955 - 141,018,083UniSTSGRCh37
Build 369140,137,776 - 140,137,904RGDNCBI36
Celera9111,546,979 - 111,547,105RGD
Cytogenetic Map9q34UniSTS
HuRef9110,485,547 - 110,485,673UniSTS
Marshfield Genetic Map9168.98UniSTS
Marshfield Genetic Map9168.98RGD
deCODE Assembly Map9160.01UniSTS
GeneMap99-GB4 RH Map9423.8UniSTS
Whitehead-RH Map9507.7UniSTS
SHGC-32482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,886,045 - 140,886,144UniSTSGRCh37
Build 369140,005,866 - 140,005,965RGDNCBI36
Celera9111,416,440 - 111,416,539RGD
Cytogenetic Map9q34UniSTS
HuRef9110,354,843 - 110,354,942UniSTS
GeneMap99-G3 RH Map94823.0UniSTS
D9S1090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,798,430 - 140,798,561UniSTSGRCh37
Build 369139,918,251 - 139,918,382RGDNCBI36
Celera9111,331,064 - 111,331,195RGD
Cytogenetic Map9q34UniSTS
HuRef9110,266,446 - 110,266,577UniSTS
Whitehead-RH Map9502.4UniSTS
D9S325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,980,350 - 140,980,439UniSTSGRCh37
Build 369140,100,171 - 140,100,260RGDNCBI36
Celera9111,509,372 - 111,509,461RGD
Cytogenetic Map9q34UniSTS
HuRef9110,447,940 - 110,448,029UniSTS
GDB:229346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,986,879 - 140,987,342UniSTSGRCh37
Build 369140,106,700 - 140,107,163RGDNCBI36
Celera9111,515,901 - 111,516,364RGD
Cytogenetic Map9q34UniSTS
HuRef9110,454,464 - 110,454,927UniSTS
SHGC-148023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,776,955 - 140,777,288UniSTSGRCh37
Build 369139,896,776 - 139,897,109RGDNCBI36
Cytogenetic Map9q34UniSTS
Cytogenetic Map9q34.3UniSTS
HuRef9110,244,972 - 110,245,305UniSTS
TNG Radiation Hybrid Map953981.0UniSTS
SHGC-153882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,958,369 - 140,958,661UniSTSGRCh37
Build 369140,078,190 - 140,078,482RGDNCBI36
Celera9111,487,391 - 111,487,683RGD
Cytogenetic Map9q34UniSTS
HuRef9110,425,959 - 110,426,251UniSTS
CACNA1B_73  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,016,022 - 141,016,682UniSTSGRCh37
Build 369140,135,843 - 140,136,503RGDNCBI36
Celera9111,545,046 - 111,545,706RGD
HuRef9110,483,614 - 110,484,274UniSTS
RH69203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,016,507 - 141,016,631UniSTSGRCh37
Build 369140,136,328 - 140,136,452RGDNCBI36
Celera9111,545,531 - 111,545,655RGD
Cytogenetic Map9q34UniSTS
HuRef9110,484,099 - 110,484,223UniSTS
GeneMap99-GB4 RH Map9427.36UniSTS
D9S218E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,809,114 - 140,809,177UniSTSGRCh37
Build 369139,928,935 - 139,928,998RGDNCBI36
Celera9111,341,747 - 111,341,810RGD
Cytogenetic Map9q34UniSTS
HuRef9110,277,132 - 110,277,195UniSTS
A004Y39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379141,018,602 - 141,018,737UniSTSGRCh37
Build 369140,138,423 - 140,138,558RGDNCBI36
Celera9111,547,624 - 111,547,759RGD
Cytogenetic Map9q34UniSTS
HuRef9110,486,192 - 110,486,327UniSTS
GeneMap99-GB4 RH Map9420.96UniSTS
Whitehead-RH Map9504.7UniSTS
RH79907  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8333
Count of miRNA genes:1103
Interacting mature miRNAs:1368
Transcripts:ENST00000277549, ENST00000277550, ENST00000277551, ENST00000371355, ENST00000371357, ENST00000371363, ENST00000371365, ENST00000371367, ENST00000371372, ENST00000413253, ENST00000545473
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage pharyngeal arch
High
Medium 1 1 226 5 2 9 1687 1 270 57 1
Low 722 20 464 10 95 10 262 98 1334 15 483 422 3 1 37 30 1
Below cutoff 1591 2757 783 378 1299 225 3888 1947 661 147 617 973 157 1119 2650

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000277549   ⟹   ENSP00000277549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,789 - 138,122,179 (+)Ensembl
RefSeq Acc Id: ENST00000277551   ⟹   ENSP00000277551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,789 - 138,122,179 (+)Ensembl
RefSeq Acc Id: ENST00000371355   ⟹   ENSP00000360406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,934 - 138,124,623 (+)Ensembl
RefSeq Acc Id: ENST00000371357   ⟹   ENSP00000360408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,934 - 138,124,624 (+)Ensembl
RefSeq Acc Id: ENST00000371363   ⟹   ENSP00000360414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,815 - 138,124,624 (+)Ensembl
RefSeq Acc Id: ENST00000371372   ⟹   ENSP00000360423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,877,782 - 138,124,619 (+)Ensembl
RefSeq Acc Id: ENST00000413253   ⟹   ENSP00000413042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9138,075,869 - 138,105,778 (+)Ensembl
RefSeq Acc Id: NM_000718   ⟹   NP_000709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 138,124,619 (+)NCBI
GRCh379140,772,241 - 141,019,076 (+)ENTREZGENE
Build 369139,892,062 - 140,136,449 (+)NCBI Archive
HuRef9110,240,583 - 110,486,666 (+)ENTREZGENE
CHM1_19140,920,972 - 141,166,813 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243812   ⟹   NP_001230741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 138,124,619 (+)NCBI
GRCh379140,772,241 - 141,019,076 (+)NCBI
HuRef9110,240,583 - 110,486,666 (+)NCBI
CHM1_19140,920,972 - 141,166,813 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000709   ⟸   NM_000718
- Peptide Label: isoform 1
- UniProtKB: Q00975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230741   ⟸   NM_001243812
- Peptide Label: isoform 2
- UniProtKB: Q00975 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360406   ⟸   ENST00000371355
RefSeq Acc Id: ENSP00000360408   ⟸   ENST00000371357
RefSeq Acc Id: ENSP00000360414   ⟸   ENST00000371363
RefSeq Acc Id: ENSP00000360423   ⟸   ENST00000371372
RefSeq Acc Id: ENSP00000413042   ⟸   ENST00000413253
RefSeq Acc Id: ENSP00000277549   ⟸   ENST00000277549
RefSeq Acc Id: ENSP00000277551   ⟸   ENST00000277551
Protein Domains
EF-hand   GPHH   Ion_trans

Promoters
RGD ID:7216829
Promoter ID:EPDNEW_H14160
Type:initiation region
Name:CACNA1B_1
Description:calcium voltage-gated channel subunit alpha1 B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,877,782 - 137,877,842EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile) single nucleotide variant Dystonia 23 [RCV001331361] Chr9:138053900 [GRCh38]
Chr9:140948352 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.6238G>A (p.Ala2080Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001331362] Chr9:138120372 [GRCh38]
Chr9:141014824 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:138041609-138100328)x3 copy number gain See cases [RCV000051031] Chr9:138041609..138100328 [GRCh38]
Chr9:140936061..140994780 [GRCh37]
Chr9:140055882..140114601 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1 copy number loss See cases [RCV000052952] Chr9:137484248..138179445 [GRCh38]
Chr9:140378700..141073897 [GRCh37]
Chr9:139498521..140193718 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1 copy number loss See cases [RCV000052953] Chr9:137514943..138121473 [GRCh38]
Chr9:140409395..141015925 [GRCh37]
Chr9:139529216..140135746 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1 copy number loss See cases [RCV000052954] Chr9:137574369..138041809 [GRCh38]
Chr9:140468821..140936261 [GRCh37]
Chr9:139588642..140056082 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1 copy number loss See cases [RCV000052955] Chr9:137598355..138091769 [GRCh38]
Chr9:140492807..140986221 [GRCh37]
Chr9:139612628..140106042 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1 copy number loss See cases [RCV000052956] Chr9:137620211..137958459 [GRCh38]
Chr9:140514663..140852911 [GRCh37]
Chr9:139634484..139972732 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 copy number loss See cases [RCV000052941] Chr9:137215877..138138735 [GRCh38]
Chr9:140110329..141033187 [GRCh37]
Chr9:139230150..140153008 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3 copy number gain See cases [RCV000053815] Chr9:137640712..137892491 [GRCh38]
Chr9:140535164..140786943 [GRCh37]
Chr9:139654985..139906764 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_000718.3(CACNA1B):c.4480G>A (p.Asp1494Asn) single nucleotide variant Malignant melanoma [RCV000068601] Chr9:138059085 [GRCh38]
Chr9:140953537 [GRCh37]
Chr9:140073358 [NCBI36]
Chr9:9q34.3
not provided
NM_000718.3(CACNA1B):c.4566C>T (p.Ile1522=) single nucleotide variant Malignant melanoma [RCV000068602] Chr9:138059171 [GRCh38]
Chr9:140953623 [GRCh37]
Chr9:140073444 [NCBI36]
Chr9:9q34.3
not provided
GRCh38/hg38 9q34.3(chr9:137862611-138059695)x3 copy number gain See cases [RCV000133653] Chr9:137862611..138059695 [GRCh38]
Chr9:140757063..140954147 [GRCh37]
Chr9:139876884..140073968 [NCBI36]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.*80C>T single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554435] Chr9:138122079 [GRCh38]
Chr9:141016531 [GRCh37]
Chr9:9q34.3
benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 copy number gain See cases [RCV000136863] Chr9:137391682..138114463 [GRCh38]
Chr9:140286134..141008915 [GRCh37]
Chr9:139405955..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137513120-138159073)x1 copy number loss See cases [RCV000137748] Chr9:137513120..138159073 [GRCh38]
Chr9:140407572..141053525 [GRCh37]
Chr9:139527393..140173346 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3 copy number gain See cases [RCV000138243] Chr9:137830545..138124532 [GRCh38]
Chr9:140724997..141018984 [GRCh37]
Chr9:139844818..140138805 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3 copy number gain See cases [RCV000140439] Chr9:137810632..138104468 [GRCh38]
Chr9:140705084..140998920 [GRCh37]
Chr9:139824905..140118741 [NCBI36]
Chr9:9q34.3
likely benign|uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3 copy number gain See cases [RCV000142761] Chr9:137763015..137902180 [GRCh38]
Chr9:140657467..140796632 [GRCh37]
Chr9:139777288..139916453 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1 copy number loss See cases [RCV000143327] Chr9:137345965..138159083 [GRCh38]
Chr9:140240417..141053535 [GRCh37]
Chr9:139360238..140173356 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) single nucleotide variant Dystonia 23 [RCV000169631] Chr9:138058108 [GRCh38]
Chr9:140952560 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance|not provided
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140712794-141018984)x3 copy number gain See cases [RCV000240012] Chr9:140712794..141018984 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.4548G>A (p.Met1516Ile) single nucleotide variant not provided [RCV000488043] Chr9:138059153 [GRCh38]
Chr9:140953605 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) single nucleotide variant Dystonia 23 [RCV000625897] Chr9:138102721 [GRCh38]
Chr9:140997173 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140862504-140994780)x3 copy number gain not provided [RCV000415787] Chr9:140862504..140994780 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.30C>T (p.Gly10=) single nucleotide variant not provided [RCV000415880] Chr9:137877963 [GRCh38]
Chr9:140772415 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q34.3(chr9:140866826-140928675)x1 copy number loss not provided [RCV000753261] Chr9:140866826..140928675 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140620020-140854178)x1 copy number loss See cases [RCV000449333] Chr9:140620020..140854178 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140309120-141018925)x1 copy number loss See cases [RCV000449201] Chr9:140309120..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140859506-141020389)x3 copy number gain See cases [RCV000447272] Chr9:140859506..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1 copy number loss See cases [RCV000446849] Chr9:140444759..140878805 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.6237C>T (p.Gly2079=) single nucleotide variant not provided [RCV000423736] Chr9:138120371 [GRCh38]
Chr9:141014823 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.3(chr9:140716758-141020389)x3 copy number gain See cases [RCV000511299] Chr9:140716758..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His) single nucleotide variant not provided [RCV000678357] Chr9:137878108 [GRCh38]
Chr9:140772560 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1 copy number loss not provided [RCV000683137] Chr9:140366594..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140706816-141020389)x3 copy number gain not provided [RCV000683111] Chr9:140706816..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1 copy number loss not provided [RCV000683132] Chr9:140447917..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140787390-141020389)x3 copy number gain not provided [RCV000683101] Chr9:140787390..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140688612-140781524)x1 copy number loss not provided [RCV000683071] Chr9:140688612..140781524 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140912517-140928675)x1 copy number loss not provided [RCV000753263] Chr9:140912517..140928675 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140866689-140915980)x0 copy number loss not provided [RCV000753260] Chr9:140866689..140915980 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140912517-140913833)x0 copy number loss not provided [RCV000753262] Chr9:140912517..140913833 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140961469-141066491)x3 copy number gain not provided [RCV000753264] Chr9:140961469..141066491 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) single nucleotide variant not provided [RCV000954955]|not specified [RCV000736115] Chr9:138074057 [GRCh38]
Chr9:140968509 [GRCh37]
Chr9:9q34.3
benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000718.4(CACNA1B):c.2298G>C (p.Ser766=) single nucleotide variant not provided [RCV000919031] Chr9:138023041 [GRCh38]
Chr9:140917493 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6831T>G (p.Thr2277=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554434] Chr9:138121810 [GRCh38]
Chr9:141016262 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.276C>A (p.Thr92=) single nucleotide variant not provided [RCV000943369] Chr9:137878209 [GRCh38]
Chr9:140772661 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.1054C>T (p.Leu352=) single nucleotide variant not provided [RCV000965127] Chr9:137952361 [GRCh38]
Chr9:140846813 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.385C>A (p.Arg129=) single nucleotide variant not provided [RCV000929206] Chr9:137879154 [GRCh38]
Chr9:140773606 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.2709G>C (p.Arg903=) single nucleotide variant not provided [RCV000951106] Chr9:138023452 [GRCh38]
Chr9:140917904 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.381C>A (p.Ser127=) single nucleotide variant not provided [RCV000899226] Chr9:137879150 [GRCh38]
Chr9:140773602 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.2093-4C>A single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988320]|not provided [RCV000949956] Chr9:138010006 [GRCh38]
Chr9:140904458 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_000718.4(CACNA1B):c.2986A>G (p.Thr996Ala) single nucleotide variant not provided [RCV000949957] Chr9:138023729 [GRCh38]
Chr9:140918181 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.5031C>T (p.Thr1677=) single nucleotide variant not provided [RCV000903294] Chr9:138078195 [GRCh38]
Chr9:140972647 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.7010A>G (p.His2337Arg) single nucleotide variant not provided [RCV000966215] Chr9:138121989 [GRCh38]
Chr9:141016441 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4020G>A (p.Gln1340=) single nucleotide variant not provided [RCV000970210] Chr9:138057783 [GRCh38]
Chr9:140952235 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.1551A>G (p.Ala517=) single nucleotide variant not provided [RCV000925675] Chr9:137975914 [GRCh38]
Chr9:140870366 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6033C>T (p.Pro2011=) single nucleotide variant not provided [RCV000943192] Chr9:138120167 [GRCh38]
Chr9:141014619 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) single nucleotide variant not provided [RCV000905204] Chr9:138078123 [GRCh38]
Chr9:140972575 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.1953C>T (p.Ala651=) single nucleotide variant not provided [RCV000966213] Chr9:137986833 [GRCh38]
Chr9:140881285 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4719G>A (p.Ala1573=) single nucleotide variant not provided [RCV000937246] Chr9:138073532 [GRCh38]
Chr9:140967984 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6889G>A (p.Val2297Met) single nucleotide variant not provided [RCV000882013] Chr9:138121868 [GRCh38]
Chr9:141016320 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.2235C>T (p.Ser745=) single nucleotide variant not provided [RCV000944066] Chr9:138013203 [GRCh38]
Chr9:140907655 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.3279C>G (p.Val1093=) single nucleotide variant not provided [RCV000983484] Chr9:138025165 [GRCh38]
Chr9:140919617 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.2925G>C (p.Pro975=) single nucleotide variant not provided [RCV000951285] Chr9:138023668 [GRCh38]
Chr9:140918120 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787347] Chr9:137955774 [GRCh38]
Chr9:140850226 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) single nucleotide variant not provided [RCV000898255] Chr9:138120229 [GRCh38]
Chr9:141014681 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.570A>G (p.Thr190=) single nucleotide variant not provided [RCV000883726] Chr9:137913219 [GRCh38]
Chr9:140807671 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.9C>T (p.Arg3=) single nucleotide variant not provided [RCV000932869] Chr9:137877942 [GRCh38]
Chr9:140772394 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.967-8G>A single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001262719]|not provided [RCV000954954] Chr9:137952266 [GRCh38]
Chr9:140846718 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_000718.4(CACNA1B):c.4950-10T>G single nucleotide variant not provided [RCV000925438] Chr9:138078104 [GRCh38]
Chr9:140972556 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.3279C>T (p.Val1093=) single nucleotide variant not provided [RCV000892244] Chr9:138025165 [GRCh38]
Chr9:140919617 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.2718C>G (p.Arg906=) single nucleotide variant not provided [RCV000918580] Chr9:138023461 [GRCh38]
Chr9:140917913 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.4044C>T (p.Tyr1348=) single nucleotide variant not provided [RCV000931521] Chr9:138057807 [GRCh38]
Chr9:140952259 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.375C>A (p.Pro125=) single nucleotide variant not provided [RCV000939397] Chr9:137879144 [GRCh38]
Chr9:140773596 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.5649+9C>A single nucleotide variant not provided [RCV000966214] Chr9:138114499 [GRCh38]
Chr9:141008951 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.2751G>T (p.Arg917=) single nucleotide variant not provided [RCV000909167] Chr9:138023494 [GRCh38]
Chr9:140917946 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6552C>T (p.Arg2184=) single nucleotide variant not provided [RCV000900498] Chr9:138121531 [GRCh38]
Chr9:141015983 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.1186+8C>T single nucleotide variant not provided [RCV000903293] Chr9:137955821 [GRCh38]
Chr9:140850273 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.372G>T (p.Thr124=) single nucleotide variant not provided [RCV000922171] Chr9:137879141 [GRCh38]
Chr9:140773593 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGA insertion not provided [RCV000919220] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1 copy number loss not provided [RCV001006281] Chr9:140401671..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.831C>T (p.Cys277=) single nucleotide variant not provided [RCV000959703] Chr9:137917296 [GRCh38]
Chr9:140811748 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787344] Chr9:138049270 [GRCh38]
Chr9:140943722 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.140498690_141025921dup duplication 9q34 microduplication syndrome [RCV000851534] Chr9:137604238..138131469 [GRCh38]
Chr9:140498690..141025921 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988321] Chr9:138023719..138023733 [GRCh38]
Chr9:140918171..140918185 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) single nucleotide variant Dystonia 23 [RCV000791100] Chr9:138078117 [GRCh38]
Chr9:140972569 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs) deletion Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787345] Chr9:138047428..138047429 [GRCh38]
Chr9:140941880..140941881 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.4857+1G>C single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000787346] Chr9:138074067 [GRCh38]
Chr9:140968519 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.3441G>T (p.Val1147=) single nucleotide variant not provided [RCV000915688] Chr9:138046931 [GRCh38]
Chr9:140941383 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.5370C>T (p.His1790=) single nucleotide variant not provided [RCV000898086] Chr9:138105749 [GRCh38]
Chr9:141000201 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140603912-141020389)x1 copy number loss not provided [RCV000846092] Chr9:140603912..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140906174-141020389)x3 copy number gain not provided [RCV000847141] Chr9:140906174..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140781439-141020389)x3 copy number gain not provided [RCV000847736] Chr9:140781439..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140920430-141020389)x1 copy number loss not provided [RCV000847982] Chr9:140920430..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140859469-141020389)x3 copy number gain not provided [RCV000847998] Chr9:140859469..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140751593-140895208)x1 copy number loss not provided [RCV000847617] Chr9:140751593..140895208 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140622578-141020389)x1 copy number loss not provided [RCV001006283] Chr9:140622578..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988319] Chr9:137882854 [GRCh38]
Chr9:140777306 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140657611-140781422)x1 copy number loss not provided [RCV000846719] Chr9:140657611..140781422 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140533412-140793866)x3 copy number gain not provided [RCV000847760] Chr9:140533412..140793866 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3 copy number gain not provided [RCV000999306] Chr9:140391637..140964215 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2906C>T (p.Ala969Val) single nucleotide variant not provided [RCV001092468] Chr9:138023649 [GRCh38]
Chr9:140918101 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.5583C>T (p.Phe1861=) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001554433] Chr9:138114424 [GRCh38]
Chr9:141008876 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4212C>T (p.Pro1404=) single nucleotide variant not provided [RCV001529873] Chr9:138058154 [GRCh38]
Chr9:140952606 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.391-91A>C single nucleotide variant not provided [RCV001539721] Chr9:137882653 [GRCh38]
Chr9:140777105 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.297T>C (p.Tyr99=) single nucleotide variant not provided [RCV000982702] Chr9:137879066 [GRCh38]
Chr9:140773518 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.2220A>G (p.Glu740=) single nucleotide variant not provided [RCV000924936] Chr9:138013188 [GRCh38]
Chr9:140907640 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.3495C>T (p.Ile1165=) single nucleotide variant not provided [RCV000936504] Chr9:138046985 [GRCh38]
Chr9:140941437 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.4308+10C>T single nucleotide variant not provided [RCV000953614]|not specified [RCV001528966] Chr9:138058260 [GRCh38]
Chr9:140952712 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAA insertion not provided [RCV000887986] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6192G>A (p.Gln2064=) single nucleotide variant not provided [RCV000909274] Chr9:138120326 [GRCh38]
Chr9:141014778 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4032C>T (p.Tyr1344=) single nucleotide variant not provided [RCV000970211] Chr9:138057795 [GRCh38]
Chr9:140952247 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4122C>T (p.Ser1374=) single nucleotide variant not provided [RCV000907324] Chr9:138058064 [GRCh38]
Chr9:140952516 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4858-4G>A single nucleotide variant not provided [RCV000907325] Chr9:138075815 [GRCh38]
Chr9:140970267 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.5000A>G (p.Asn1667Ser) single nucleotide variant not provided [RCV000907326] Chr9:138078164 [GRCh38]
Chr9:140972616 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) single nucleotide variant Dystonia 23 [RCV001270072]|not provided [RCV000981224] Chr9:138121819 [GRCh38]
Chr9:141016271 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.4308+7G>A single nucleotide variant not provided [RCV000907451] Chr9:138058257 [GRCh38]
Chr9:140952709 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.4474-4G>A single nucleotide variant not provided [RCV000977862] Chr9:138059075 [GRCh38]
Chr9:140953527 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.918G>A (p.Thr306=) single nucleotide variant not provided [RCV000910484] Chr9:137917383 [GRCh38]
Chr9:140811835 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.6452C>T (p.Ser2151Leu) single nucleotide variant not provided [RCV001092469] Chr9:138120844 [GRCh38]
Chr9:141015296 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.6449C>T (p.Thr2150Met) single nucleotide variant not provided [RCV000889816] Chr9:138120841 [GRCh38]
Chr9:141015293 [GRCh37]
Chr9:9q34.3
likely benign
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val) single nucleotide variant not provided [RCV000890905] Chr9:138049278 [GRCh38]
Chr9:140943730 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.2654GGCCGC[1] (p.885RP[1]) microsatellite not provided [RCV000999303] Chr9:138023395..138023400 [GRCh38]
Chr9:140917847..140917852 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2581C>T (p.Pro861Ser) single nucleotide variant not provided [RCV000889712] Chr9:138023324 [GRCh38]
Chr9:140917776 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.1975-268G>A single nucleotide variant not provided [RCV001530897] Chr9:138006499 [GRCh38]
Chr9:140900951 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.4584+4C>T single nucleotide variant CACNA1B-related neurodevelopmental disorder [RCV001563588] Chr9:138059193 [GRCh38]
Chr9:140953645 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140612478-141020389)x1 copy number loss not provided [RCV001006282] Chr9:140612478..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.1310G>A (p.Arg437Gln) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001253724] Chr9:137957664 [GRCh38]
Chr9:140852116 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.6260C>T (p.Pro2087Leu) single nucleotide variant Seizures [RCV001256102]|not provided [RCV001458718] Chr9:138120652 [GRCh38]
Chr9:141015104 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001291660]|not provided [RCV001529644] Chr9:137878012 [GRCh38]
Chr9:140772464 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.3421C>T (p.Arg1141Cys) single nucleotide variant Seizures [RCV001255077] Chr9:138046911 [GRCh38]
Chr9:140941363 [GRCh37]
Chr9:9q34.3
uncertain significance
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.6323G>A (p.Arg2108Gln) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001291682] Chr9:138120715 [GRCh38]
Chr9:141015167 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.2636C>A (p.Pro879His) single nucleotide variant Dystonia 23 [RCV001334561] Chr9:138023379 [GRCh38]
Chr9:140917831 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.6314G>A (p.Arg2105Gln) single nucleotide variant not provided [RCV001356381] Chr9:138120706 [GRCh38]
Chr9:141015158 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA insertion not provided [RCV001354706] Chr9:137879160..137879161 [GRCh38]
Chr9:140773612..140773613 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_000718.4(CACNA1B):c.5065G>A (p.Val1689Ile) single nucleotide variant not provided [RCV001356393] Chr9:138078229 [GRCh38]
Chr9:140972681 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.530+209T>C single nucleotide variant not provided [RCV001536678] Chr9:137883092 [GRCh38]
Chr9:140777544 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.3481G>A (p.Ala1161Thr) single nucleotide variant Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001420521] Chr9:138046971 [GRCh38]
Chr9:140941423 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_000718.4(CACNA1B):c.5649+45G>A single nucleotide variant not provided [RCV001534251] Chr9:138114535 [GRCh38]
Chr9:141008987 [GRCh37]
Chr9:9q34.3
benign
NC_000009.11:g.(?_140513481)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387112] Chr9:140513481..141016451 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140622791)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387113] Chr9:140622791..141016451 [GRCh37]
Chr9:9q34.3
pathogenic
Single allele single nucleotide variant not provided [RCV001541222] Chr9:137877642 [GRCh38]
Chr9:140772094 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.3808-101G>A single nucleotide variant not provided [RCV001539253] Chr9:138053745 [GRCh38]
Chr9:140948197 [GRCh37]
Chr9:9q34.3
benign
NM_000718.4(CACNA1B):c.6832C>A (p.Leu2278Ile) single nucleotide variant not provided [RCV001400720] Chr9:138121811 [GRCh38]
Chr9:141016263 [GRCh37]
Chr9:9q34.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1389 AgrOrtholog
COSMIC CACNA1B COSMIC
Ensembl Genes ENSG00000148408 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000277549 UniProtKB/TrEMBL
  ENSP00000277551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360406 UniProtKB/TrEMBL
  ENSP00000360408 UniProtKB/TrEMBL
  ENSP00000360414 UniProtKB/TrEMBL
  ENSP00000360423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413042 UniProtKB/TrEMBL
Ensembl Transcript ENST00000277549 UniProtKB/TrEMBL
  ENST00000277551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371355 UniProtKB/TrEMBL
  ENST00000371357 UniProtKB/TrEMBL
  ENST00000371363 UniProtKB/TrEMBL
  ENST00000371372 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413253 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148408 GTEx
HGNC ID HGNC:1389 ENTREZGENE
Human Proteome Map CACNA1B Human Proteome Map
InterPro EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_a1su_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCC_N_a1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VDCCAlpha1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VGCC_Ca_Na UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:774 UniProtKB/Swiss-Prot
NCBI Gene 774 ENTREZGENE
OMIM 601012 OMIM
  614860 OMIM
  618497 OMIM
PANTHER PTHR10037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10037:SF289 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45628:SF6 UniProtKB/TrEMBL
Pfam Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPHH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26008 PharmGKB
PRINTS CACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NVDCCALPHA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ca_chan_IQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8I1_HUMAN UniProtKB/TrEMBL
  B1AQK6_HUMAN UniProtKB/TrEMBL
  B1AQK7_HUMAN UniProtKB/TrEMBL
  CAC1B_HUMAN UniProtKB/Swiss-Prot
  E9PDR3_HUMAN UniProtKB/TrEMBL
  F6RH32_HUMAN UniProtKB/TrEMBL
  H0Y7I8_HUMAN UniProtKB/TrEMBL
  Q00975 ENTREZGENE
  Q9HAT3_HUMAN UniProtKB/TrEMBL
  Q9HAT4_HUMAN UniProtKB/TrEMBL
  Q9HAT5_HUMAN UniProtKB/TrEMBL
  Q9HAT6_HUMAN UniProtKB/TrEMBL
  Q9HBG1_HUMAN UniProtKB/TrEMBL
  Q9HBG2_HUMAN UniProtKB/TrEMBL
  Q9HBG3_HUMAN UniProtKB/TrEMBL
  Q9HBH2_HUMAN UniProtKB/TrEMBL
  Q9HBH3_HUMAN UniProtKB/TrEMBL
  Q9HBH4_HUMAN UniProtKB/TrEMBL
  Q9HBI3_HUMAN UniProtKB/TrEMBL
  Q9HBI4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AQK5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CACNA1B  calcium voltage-gated channel subunit alpha1 B    calcium channel, voltage-dependent, N type, alpha 1B subunit  Symbol and/or name change 5135510 APPROVED