KCNA5 (potassium voltage-gated channel subfamily A member 5) - Rat Genome Database

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Gene: KCNA5 (potassium voltage-gated channel subfamily A member 5) Homo sapiens
Analyze
Symbol: KCNA5
Name: potassium voltage-gated channel subfamily A member 5
RGD ID: 731065
HGNC Page HGNC
Description: Enables several functions, including alpha-actinin binding activity; scaffold protein binding activity; and voltage-gated potassium channel activity. Involved in several processes, including cardiac conduction; membrane hyperpolarization; and regulation of ion transport. Acts upstream of or within potassium ion transport. Located in several cellular components, including cell surface; intercalated disc; and membrane raft. Is integral component of plasma membrane. Part of voltage-gated potassium channel complex. Implicated in familial atrial fibrillation and pulmonary hypertension. Biomarker of pulmonary hypertension and stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATFB7; cardiac potassium channel; HCK1; HK2; HPCN1; insulinoma and islet potassium channel; KV1.5; MGC117058; MGC117059; PCN1; potassium channel 1; potassium channel protein; potassium channel, voltage gated shaker related subfamily A, member 5; potassium voltage-gated channel, shaker-related subfamily, member 5; voltage-gated potassium channel HK2; voltage-gated potassium channel protein Kv1.5; voltage-gated potassium channel subunit Kv1.5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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 Ensembl125,043,879 - 5,046,788 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,043,879 - 5,046,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37125,153,045 - 5,155,954 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,023,346 - 5,026,210 (+)NCBINCBI36hg18NCBI36
Build 34125,023,345 - 5,026,210NCBI
Celera126,774,165 - 6,777,029 (+)NCBI
Cytogenetic Map12p13.32NCBI
HuRef125,009,439 - 5,012,308 (+)NCBIHuRef
CHM1_1125,152,272 - 5,155,141 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)
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)
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

Human Phenotype
References

Additional References at PubMed
PMID:1349297   PMID:1986382   PMID:2001794   PMID:7615797   PMID:7838127   PMID:8242092   PMID:8576199   PMID:8821794   PMID:8889548   PMID:8953041   PMID:9271355   PMID:9760292  
PMID:10812072   PMID:10820151   PMID:10921884   PMID:11149959   PMID:11389904   PMID:12021261   PMID:12130714   PMID:12435606   PMID:12477932   PMID:12601085   PMID:12815189   PMID:12850541  
PMID:12860415   PMID:12970345   PMID:13679372   PMID:14506255   PMID:14527939   PMID:14578345   PMID:15123239   PMID:15140747   PMID:15217912   PMID:15353504   PMID:15588985   PMID:15623896  
PMID:15735608   PMID:16051887   PMID:16236819   PMID:16382104   PMID:16411137   PMID:16466689   PMID:16729292   PMID:16765315   PMID:16780588   PMID:16902793   PMID:16956964   PMID:17060380  
PMID:17261810   PMID:17344312   PMID:17428690   PMID:17868645   PMID:18068743   PMID:18083891   PMID:18157847   PMID:18209767   PMID:18218624   PMID:18245566   PMID:18281375   PMID:18385285  
PMID:18485768   PMID:18755741   PMID:18987637   PMID:19029374   PMID:19332619   PMID:19343045   PMID:19443837   PMID:19675065   PMID:19706553   PMID:19913121   PMID:19961828   PMID:20018952  
PMID:20025600   PMID:20133392   PMID:20184887   PMID:20346360   PMID:20357183   PMID:20556823   PMID:20581043   PMID:20628086   PMID:20638934   PMID:20646426   PMID:20798505   PMID:21681339  
PMID:21873635   PMID:22053194   PMID:22166221   PMID:22360360   PMID:22547057   PMID:22939624   PMID:23185428   PMID:23221389   PMID:23264583   PMID:23270786   PMID:23390957   PMID:23847097  
PMID:24550280   PMID:24663680   PMID:24682423   PMID:24936649   PMID:24946104   PMID:25435365   PMID:25918274   PMID:26129877   PMID:26232501   PMID:26256861   PMID:26292661   PMID:26569226  
PMID:26573141   PMID:26874203   PMID:26931497   PMID:27075359   PMID:28514442   PMID:28622331   PMID:28803858   PMID:29652491   PMID:30121572   PMID:30816676   PMID:30862715   PMID:31597447  
PMID:31861703   PMID:32019676   PMID:32122972   PMID:32186932   PMID:32296183   PMID:33267786   PMID:33572906  


Genomics

Comparative Map Data
KCNA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl125,043,879 - 5,046,788 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,043,879 - 5,046,788 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37125,153,045 - 5,155,954 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,023,346 - 5,026,210 (+)NCBINCBI36hg18NCBI36
Build 34125,023,345 - 5,026,210NCBI
Celera126,774,165 - 6,777,029 (+)NCBI
Cytogenetic Map12p13.32NCBI
HuRef125,009,439 - 5,012,308 (+)NCBIHuRef
CHM1_1125,152,272 - 5,155,141 (+)NCBICHM1_1
Kcna5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396126,509,514 - 126,512,518 (-)NCBIGRCm39mm39
GRCm39 Ensembl6126,509,514 - 126,512,375 (-)Ensembl
GRCm386126,532,551 - 126,535,555 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6126,532,551 - 126,535,412 (-)EnsemblGRCm38mm10GRCm38
MGSCv376126,482,569 - 126,485,573 (-)NCBIGRCm37mm9NCBIm37
MGSCv366126,498,172 - 126,501,031 (-)NCBImm8
Celera6128,202,194 - 128,205,198 (-)NCBICelera
Cytogenetic Map6F3NCBI
cM Map661.35NCBI
Kcna5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24159,354,689 - 159,358,173 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl4159,350,097 - 159,357,697 (-)Ensembl
Rnor_6.04159,077,195 - 159,079,003 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4159,077,195 - 159,079,003 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04226,075,051 - 226,076,859 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44162,896,283 - 162,898,091 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14163,141,218 - 163,143,027 (-)NCBI
Celera4148,072,289 - 148,074,097 (-)NCBICelera
RH 3.4 Map41009.3RGD
Cytogenetic Map4q42NCBI
Kcna5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554132,836,146 - 2,837,966 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554132,835,730 - 2,838,761 (+)NCBIChiLan1.0ChiLan1.0
KCNA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1125,083,877 - 5,086,739 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0125,165,057 - 5,168,307 (+)NCBIMhudiblu_PPA_v0panPan3
KCNA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12739,808,987 - 39,810,789 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2739,756,363 - 39,811,035 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha276,870,413 - 6,872,215 (+)NCBI
ROS_Cfam_1.02740,165,046 - 40,166,848 (-)NCBI
UMICH_Zoey_3.12740,035,731 - 40,037,533 (-)NCBI
UNSW_CanFamBas_1.02740,079,166 - 40,080,968 (-)NCBI
UU_Cfam_GSD_1.0276,281,461 - 6,283,263 (+)NCBI
KCNA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1565,439,336 - 65,442,207 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2567,652,617 - 67,655,142 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1115,085,221 - 5,088,135 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl115,085,518 - 5,087,335 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660633,158,446 - 3,161,477 (-)NCBIVero_WHO_p1.0
Kcna5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248602,042,325 - 2,045,953 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:214843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,155,155 - 5,155,740UniSTSGRCh37
Build 36125,025,416 - 5,026,001RGDNCBI36
Celera126,776,235 - 6,776,820RGD
Cytogenetic Map12p13UniSTS
HuRef125,011,509 - 5,012,094UniSTS
GDB:384722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,155,078 - 5,155,216UniSTSGRCh37
Build 36125,025,339 - 5,025,477RGDNCBI36
Celera126,776,158 - 6,776,296RGD
Cytogenetic Map12p13UniSTS
HuRef125,011,432 - 5,011,570UniSTS
WI-7206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,155,097 - 5,155,434UniSTSGRCh37
Build 36125,025,358 - 5,025,695RGDNCBI36
Celera126,776,177 - 6,776,514RGD
Cytogenetic Map12p13UniSTS
HuRef125,011,451 - 5,011,788UniSTS
Whitehead-YAC Contig Map12 UniSTS
KCNA5_871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,154,625 - 5,155,436UniSTSGRCh37
Build 36125,024,886 - 5,025,697RGDNCBI36
Celera126,775,705 - 6,776,516RGD
HuRef125,010,979 - 5,011,790UniSTS
Kcna5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37125,154,015 - 5,154,129UniSTSGRCh37
Build 36125,024,276 - 5,024,390RGDNCBI36
Celera126,775,095 - 6,775,209RGD
HuRef125,010,369 - 5,010,483UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:314
Count of miRNA genes:288
Interacting mature miRNAs:303
Transcripts:ENST00000252321
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 313 1722 204 5 731 147 371 14 56 106 74 682
Low 1743 479 880 122 386 66 2554 1830 3012 249 801 1174 58 1 1035 1670 1
Below cutoff 252 503 552 427 724 322 969 169 265 107 478 131 109 95 435 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000252321   ⟹   ENSP00000252321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,043,879 - 5,046,788 (+)Ensembl
RefSeq Acc Id: NM_002234   ⟹   NP_002225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,043,879 - 5,046,788 (+)NCBI
GRCh37125,153,085 - 5,155,954 (+)NCBI
Build 36125,023,346 - 5,026,210 (+)NCBI Archive
HuRef125,009,439 - 5,012,308 (+)NCBI
CHM1_1125,152,272 - 5,155,141 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002225   ⟸   NM_002234
- UniProtKB: P22460 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252321   ⟸   ENST00000252321


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002234.4(KCNA5):c.1039C>T (p.Pro347Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000532173] Chr12:5045186 [GRCh38]
Chr12:5154352 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.293AAG[1] (p.Glu99del) microsatellite Atrial fibrillation, familial, 7 [RCV000526019] Chr12:5044439..5044441 [GRCh38]
Chr12:5153605..5153607 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.382G>C (p.Gly128Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000529769] Chr12:5044529 [GRCh38]
Chr12:5153695 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.754A>G (p.Ile252Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000532729] Chr12:5044901 [GRCh38]
Chr12:5154067 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000546106] Chr12:5045686 [GRCh38]
Chr12:5154852 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.213_245dup (p.Asp72_Pro82dup) duplication Atrial fibrillation, familial, 7 [RCV000527352] Chr12:5044331..5044332 [GRCh38]
Chr12:5153497..5153498 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001087399]|not provided [RCV000786331] Chr12:5044691 [GRCh38]
Chr12:5153857 [GRCh37]
Chr12:12p13.32
likely benign|uncertain significance
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000542912]|not provided [RCV001576731] Chr12:5044226 [GRCh38]
Chr12:5153392 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000543745]|not provided [RCV001683575] Chr12:5044762 [GRCh38]
Chr12:5153928 [GRCh37]
Chr12:12p13.32
benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.1826G>C (p.Arg609Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000548512] Chr12:5045973 [GRCh38]
Chr12:5155139 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.964G>C (p.Asp322His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000549134] Chr12:5045111 [GRCh38]
Chr12:5154277 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000014411] Chr12:5045270 [GRCh38]
Chr12:5154436 [GRCh37]
Chr12:12p13.32
pathogenic
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000014412]|not provided [RCV000295612] Chr12:5045727 [GRCh38]
Chr12:5154893 [GRCh37]
Chr12:12p13.32
pathogenic|uncertain significance
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000014413] Chr12:5045874 [GRCh38]
Chr12:5155040 [GRCh37]
Chr12:12p13.32
pathogenic
NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000014414] Chr12:5045975 [GRCh38]
Chr12:5155141 [GRCh37]
Chr12:12p13.32
pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3 copy number gain See cases [RCV000051954] Chr12:4832052..5947324 [GRCh38]
Chr12:4941218..6056490 [GRCh37]
Chr12:4811479..5926751 [NCBI36]
Chr12:12p13.32-13.31
uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000114990]|not provided [RCV000171655] Chr12:5045060 [GRCh38]
Chr12:5154226 [GRCh37]
Chr12:12p13.32
pathogenic|uncertain significance
NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000114991] Chr12:5044290 [GRCh38]
Chr12:5153456 [GRCh37]
Chr12:12p13.32
pathogenic
NM_002234.4(KCNA5):c.1282C>T (p.Gln428Ter) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001348558] Chr12:5045429 [GRCh38]
Chr12:5154595 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1329C>G (p.Ile443Met) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001293386] Chr12:5045476 [GRCh38]
Chr12:5154642 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.570C>G (p.Asn190Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001047327] Chr12:5044717 [GRCh38]
Chr12:5153883 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000552291]|not provided [RCV000171648] Chr12:5044398 [GRCh38]
Chr12:5153564 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000988774]|not provided [RCV000171649] Chr12:5044611 [GRCh38]
Chr12:5153777 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV000171650] Chr12:5044698 [GRCh38]
Chr12:5153864 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646137]|not provided [RCV000171652] Chr12:5044781 [GRCh38]
Chr12:5153947 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110302]|not provided [RCV000171653] Chr12:5044848 [GRCh38]
Chr12:5154014 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001087942]|not provided [RCV000171654] Chr12:5045045 [GRCh38]
Chr12:5154211 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.966C>G (p.Asp322Glu) single nucleotide variant not provided [RCV000171657] Chr12:5045113 [GRCh38]
Chr12:5154279 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000549885]|altered potassium channel function [RCV000171656]|not provided [RCV001589050]|not specified [RCV001699140] Chr12:5045066 [GRCh38]
Chr12:5154232 [GRCh37]
Chr12:12p13.32
benign|likely benign|uncertain significance
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000558412]|not provided [RCV001572727]|not specified [RCV000171806] Chr12:5044898 [GRCh38]
Chr12:5154064 [GRCh37]
Chr12:12p13.32
benign|likely benign
null single nucleotide variant Atrial fibrillation, familial, 7 [RCV000528756]|not provided [RCV001610480]|not specified [RCV000171807] Chr12:5045076 [GRCh38]
Chr12:5154242 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000959240]|not provided [RCV001682881]|not specified [RCV000171808] Chr12:5045297 [GRCh38]
Chr12:5154463 [GRCh37]
Chr12:12p13.32
benign|likely benign|uncertain significance
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000528153]|Brugada syndrome 1 [RCV000584775]|not provided [RCV001572979]|not specified [RCV000171809] Chr12:5045880 [GRCh38]
Chr12:5155046 [GRCh37]
Chr12:12p13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646140]|Primary pulmonary hypertension 1 [RCV000171651]|not specified [RCV000607514] Chr12:5044780 [GRCh38]
Chr12:5153946 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1 copy number loss Ductal breast carcinoma [RCV000207062] Chr12:4772521..5854093 [GRCh38]
Chr12:4881687..5963259 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
chr12:4920767-5603935 complex variant complex Ductal breast carcinoma [RCV000207328] Chr12:4920767..5603935 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3 copy number gain See cases [RCV000239919] Chr12:4872405..5347944 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000600992]|not provided [RCV001711689]|not specified [RCV000251000] Chr12:5045296 [GRCh38]
Chr12:5154462 [GRCh37]
Chr12:12p13.32
benign|likely benign
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002234.4(KCNA5):c.*736A>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV000300020] Chr12:5046725 [GRCh38]
Chr12:5155891 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001084961]|not provided [RCV000422515] Chr12:5044239 [GRCh38]
Chr12:5153405 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.*50G>A single nucleotide variant Atrial fibrillation, familial, 7 [RCV000303534] Chr12:5046039 [GRCh38]
Chr12:5155205 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000390364] Chr12:5045476 [GRCh38]
Chr12:5154642 [GRCh37]
Chr12:12p13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.-49G>C single nucleotide variant Atrial fibrillation, familial, 7 [RCV000271963] Chr12:5044099 [GRCh38]
Chr12:5153265 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.*508A>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV000399775] Chr12:5046497 [GRCh38]
Chr12:5155663 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000555990]|not provided [RCV001675792]|not specified [RCV001699303] Chr12:5044528 [GRCh38]
Chr12:5153694 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.*782G>A single nucleotide variant Atrial fibrillation, familial, 7 [RCV000354812] Chr12:5046771 [GRCh38]
Chr12:5155937 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.140A>G (p.Lys47Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000275631] Chr12:5044287 [GRCh38]
Chr12:5153453 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.180G>A (p.Ala60=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000533761] Chr12:5044327 [GRCh38]
Chr12:5153493 [GRCh37]
Chr12:12p13.32
benign|likely benign|uncertain significance
NM_002234.4(KCNA5):c.-167C>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV000364132]|not provided [RCV001534965] Chr12:5043981 [GRCh38]
Chr12:5153147 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.1149_1150inv (p.Gly384Arg) inversion Atrial fibrillation, familial, 7 [RCV000546883] Chr12:5045296..5045297 [GRCh38]
Chr12:5154462..5154463 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.36T>C (p.Gly12=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000329464] Chr12:5044183 [GRCh38]
Chr12:5153349 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.847C>T (p.Arg283Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000291958] Chr12:5044994 [GRCh38]
Chr12:5154160 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.258A>C (p.Pro86=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000295613] Chr12:5044405 [GRCh38]
Chr12:5153571 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.3(KCNA5):c.*800G>A single nucleotide variant Familial atrial fibrillation [RCV000393478] Chr12:5046789 [GRCh38]
Chr12:5155955 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.*493A>G single nucleotide variant Atrial fibrillation, familial, 7 [RCV000358344] Chr12:5046482 [GRCh38]
Chr12:5155648 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000343195] Chr12:5045357 [GRCh38]
Chr12:5154523 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1020C>T (p.Leu340=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000553315] Chr12:5045167 [GRCh38]
Chr12:5154333 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.677_680dup (p.Arg229fs) duplication not specified [RCV000598935] Chr12:5044823..5044824 [GRCh38]
Chr12:5153989..5153990 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.460C>A (p.Arg154Ser) single nucleotide variant not provided [RCV000592918] Chr12:5044607 [GRCh38]
Chr12:5153773 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) indel Atrial fibrillation, familial, 7 [RCV001047238]|not provided [RCV000732300] Chr12:5045006..5045007 [GRCh38]
Chr12:5154172..5154173 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.911T>C (p.Met304Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000535130] Chr12:5045058 [GRCh38]
Chr12:5154224 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000549875]|Heart disease [RCV000414965]|not provided [RCV001662370] Chr12:5045850 [GRCh38]
Chr12:5155016 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000533539]|not provided [RCV001539333] Chr12:5044717 [GRCh38]
Chr12:5153883 [GRCh37]
Chr12:12p13.32
benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000542088] Chr12:5044376 [GRCh38]
Chr12:5153542 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.898G>T (p.Gly300Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000556807] Chr12:5045045 [GRCh38]
Chr12:5154211 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1354G>A (p.Val452Ile) single nucleotide variant Arrhythmia [RCV000626820]|Atrial fibrillation, familial, 7 [RCV001195958] Chr12:5045501 [GRCh38]
Chr12:5154667 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1497G>A (p.Leu499=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000535336] Chr12:5045644 [GRCh38]
Chr12:5154810 [GRCh37]
Chr12:12p13.32
benign|likely benign
NM_002234.4(KCNA5):c.967C>T (p.Pro323Ser) single nucleotide variant not provided [RCV000596011] Chr12:5045114 [GRCh38]
Chr12:5154280 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.497A>C (p.Asp166Ala) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646126]|not provided [RCV000994782] Chr12:5044644 [GRCh38]
Chr12:5153810 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.667G>A (p.Glu223Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646127] Chr12:5044814 [GRCh38]
Chr12:5153980 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646128]|not provided [RCV001584489] Chr12:5045937 [GRCh38]
Chr12:5155103 [GRCh37]
Chr12:12p13.32
likely benign|uncertain significance
NM_002234.4(KCNA5):c.1681G>C (p.Gly561Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646129] Chr12:5045828 [GRCh38]
Chr12:5154994 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.877G>A (p.Ala293Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646130] Chr12:5045024 [GRCh38]
Chr12:5154190 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1730G>A (p.Arg577Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646131] Chr12:5045877 [GRCh38]
Chr12:5155043 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.98A>T (p.Glu33Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646133] Chr12:5044245 [GRCh38]
Chr12:5153411 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1353C>T (p.Ala451=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646138] Chr12:5045500 [GRCh38]
Chr12:5154666 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.816G>A (p.Leu272=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646139] Chr12:5044963 [GRCh38]
Chr12:5154129 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.221G>A (p.Gly74Glu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646141] Chr12:5044368 [GRCh38]
Chr12:5153534 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.852_869del (p.His284_His289del) deletion Atrial fibrillation, familial, 7 [RCV000535914]|not provided [RCV000786332] Chr12:5044996..5045013 [GRCh38]
Chr12:5154162..5154179 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.36T>G (p.Gly12=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000541280] Chr12:5044183 [GRCh38]
Chr12:5153349 [GRCh37]
Chr12:12p13.32
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000560781]|not provided [RCV001591249] Chr12:5045742 [GRCh38]
Chr12:5154908 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.1327A>G (p.Ile443Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000557048]|not provided [RCV001541143] Chr12:5045474 [GRCh38]
Chr12:5154640 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000534556] Chr12:5045819 [GRCh38]
Chr12:5154985 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.848G>A (p.Arg283His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000557596] Chr12:5044995 [GRCh38]
Chr12:5154161 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1400T>C (p.Ile467Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646132] Chr12:5045547 [GRCh38]
Chr12:5154713 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.961G>A (p.Ala321Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001409452]|not provided [RCV000646134] Chr12:5045108 [GRCh38]
Chr12:5154274 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1114C>T (p.Leu372=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000646135] Chr12:5045261 [GRCh38]
Chr12:5154427 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) deletion Atrial fibrillation, familial, 7 [RCV000646136]|not provided [RCV001571532] Chr12:5044332..5044364 [GRCh38]
Chr12:5153498..5153530 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity
NM_002234.4(KCNA5):c.106T>A (p.Cys36Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000686772] Chr12:5044253 [GRCh38]
Chr12:5153419 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1 copy number loss not provided [RCV000683465] Chr12:4305058..6066141 [GRCh37]
Chr12:12p13.32-13.31
likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.32(chr12:5013607-5391393)x3 copy number gain not provided [RCV000683426] Chr12:5013607..5391393 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000702837]|not provided [RCV000994785] Chr12:5044944 [GRCh38]
Chr12:5154110 [GRCh37]
Chr12:12p13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.1045A>G (p.Lys349Glu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000684849] Chr12:5045192 [GRCh38]
Chr12:5154358 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1832C>A (p.Thr611Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000686638] Chr12:5045979 [GRCh38]
Chr12:5155145 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1565T>C (p.Phe522Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000702445] Chr12:5045712 [GRCh38]
Chr12:5154878 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.521_522delinsCC (p.Gly174Ala) indel Atrial fibrillation, familial, 7 [RCV000694027] Chr12:5044668..5044669 [GRCh38]
Chr12:5153834..5153835 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1354G>C (p.Val452Leu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000696286] Chr12:5045501 [GRCh38]
Chr12:5154667 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.260G>A (p.Arg87Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000685235] Chr12:5044407 [GRCh38]
Chr12:5153573 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.775G>T (p.Val259Phe) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000696762] Chr12:5044922 [GRCh38]
Chr12:5154088 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1729C>T (p.Arg577Ter) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000694606] Chr12:5045876 [GRCh38]
Chr12:5155042 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
null single nucleotide variant not provided [RCV001692560] Chr12:5043783 [GRCh38]
Chr12:5152949 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.1347C>T (p.Ser449=) single nucleotide variant not provided [RCV000994787] Chr12:5045494 [GRCh38]
Chr12:5154660 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.325_348dup (p.Asp109_Ser116dup) duplication Atrial fibrillation, familial, 7 [RCV001064890] Chr12:5044471..5044472 [GRCh38]
Chr12:5153637..5153638 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1011C>T (p.Phe337=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001440468]|not provided [RCV000982003] Chr12:5045158 [GRCh38]
Chr12:5154324 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1005C>T (p.Phe335=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001431325]|not provided [RCV000867605] Chr12:5045152 [GRCh38]
Chr12:5154318 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1233C>T (p.Phe411=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000928185] Chr12:5045380 [GRCh38]
Chr12:5154546 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.843G>A (p.Leu281=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001484584]|not provided [RCV000867875] Chr12:5044990 [GRCh38]
Chr12:5154156 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.543C>T (p.Ser181=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001469353]|not provided [RCV000941904] Chr12:5044690 [GRCh38]
Chr12:5153856 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.86C>A (p.Ala29Asp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000864457] Chr12:5044233 [GRCh38]
Chr12:5153399 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1170G>A (p.Gly390=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000868443] Chr12:5045317 [GRCh38]
Chr12:5154483 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.853C>G (p.Pro285Ala) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001035123] Chr12:5045000 [GRCh38]
Chr12:5154166 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.459_460delinsAA (p.Arg154Ser) indel Atrial fibrillation, familial, 7 [RCV001053504] Chr12:5044606..5044607 [GRCh38]
Chr12:5153772..5153773 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1588G>A (p.Glu530Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001052766] Chr12:5045735 [GRCh38]
Chr12:5154901 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.926G>A (p.Gly309Asp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001057633]|not provided [RCV001354757] Chr12:5045073 [GRCh38]
Chr12:5154239 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.675G>A (p.Lys225=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000866938] Chr12:5044822 [GRCh38]
Chr12:5153988 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.207G>T (p.Pro69=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000868241] Chr12:5044354 [GRCh38]
Chr12:5153520 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.1650A>G (p.Arg550=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001434861]|not provided [RCV000862425] Chr12:5045797 [GRCh38]
Chr12:5154963 [GRCh37]
Chr12:12p13.32
likely benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Hyperphosphatemic familial tumoral calcinosis 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.636C>G (p.Arg212=) single nucleotide variant not provided [RCV000873128] Chr12:5044783 [GRCh38]
Chr12:5153949 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.859G>T (p.Ala287Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000897251] Chr12:5045006 [GRCh38]
Chr12:5154172 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.860C>T (p.Ala287Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000897252] Chr12:5045007 [GRCh38]
Chr12:5154173 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.640C>T (p.Arg214Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000819168]|not provided [RCV001565818] Chr12:5044787 [GRCh38]
Chr12:5153953 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.28A>G (p.Asn10Asp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000820256] Chr12:5044175 [GRCh38]
Chr12:5153341 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1189G>A (p.Ala397Thr) single nucleotide variant not provided [RCV000994786] Chr12:5045336 [GRCh38]
Chr12:5154502 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.622G>T (p.Glu208Ter) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000814042] Chr12:5044769 [GRCh38]
Chr12:5153935 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.706G>A (p.Val236Met) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000791475] Chr12:5044853 [GRCh38]
Chr12:5154019 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.196C>T (p.Pro66Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000824001] Chr12:5044343 [GRCh38]
Chr12:5153509 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.230C>G (p.Pro77Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000808789] Chr12:5044377 [GRCh38]
Chr12:5153543 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.562C>G (p.Pro188Ala) single nucleotide variant not provided [RCV000994783] Chr12:5044709 [GRCh38]
Chr12:5153875 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.757G>A (p.Ala253Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001044887] Chr12:5044904 [GRCh38]
Chr12:5154070 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.188G>T (p.Gly63Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000794058] Chr12:5044335 [GRCh38]
Chr12:5153501 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1826G>A (p.Arg609Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000824187] Chr12:5045973 [GRCh38]
Chr12:5155139 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.629T>C (p.Met210Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000815419] Chr12:5044776 [GRCh38]
Chr12:5153942 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1702G>T (p.Gly568Trp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000803060] Chr12:5045849 [GRCh38]
Chr12:5155015 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.*543G>C single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114418] Chr12:5046532 [GRCh38]
Chr12:5155698 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.95dup (p.Glu33fs) duplication not provided [RCV000994781] Chr12:5044237..5044238 [GRCh38]
Chr12:5153403..5153404 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1509C>T (p.Ala503=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000869954] Chr12:5045656 [GRCh38]
Chr12:5154822 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.1060C>T (p.Arg354Trp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001068318] Chr12:5045207 [GRCh38]
Chr12:5154373 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1141C>A (p.Pro381Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001217759] Chr12:5045288 [GRCh38]
Chr12:5154454 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.416C>A (p.Ala139Glu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001234928] Chr12:5044563 [GRCh38]
Chr12:5153729 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.824T>C (p.Phe275Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001225892] Chr12:5044971 [GRCh38]
Chr12:5154137 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.32(chr12:5153314-5155155)x1 copy number loss not provided [RCV000995028] Chr12:5153314..5155155 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.449C>T (p.Ala150Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001196347] Chr12:5044596 [GRCh38]
Chr12:5153762 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.937_940dup (p.Pro314fs) duplication Atrial fibrillation, familial, 7 [RCV001197676] Chr12:5045083..5045084 [GRCh38]
Chr12:5154249..5154250 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.389G>A (p.Arg130His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110299] Chr12:5044536 [GRCh38]
Chr12:5153702 [GRCh37]
Chr12:12p13.32
uncertain significance
Single allele single nucleotide variant not provided [RCV001553413] Chr12:5043601 [GRCh38]
Chr12:5152767 [GRCh37]
Chr12:12p13.32
likely benign
null single nucleotide variant not provided [RCV001614043] Chr12:5043793 [GRCh38]
Chr12:5152959 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.828G>A (p.Arg276=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001400517]|not provided [RCV000866531] Chr12:5044975 [GRCh38]
Chr12:5154141 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1353C>G (p.Ala451=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000886659] Chr12:5045500 [GRCh38]
Chr12:5154666 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.1713G>A (p.Glu571=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000862992] Chr12:5045860 [GRCh38]
Chr12:5155026 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.960G>A (p.Leu320=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001496196]|not provided [RCV000875003] Chr12:5045107 [GRCh38]
Chr12:5154273 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.78C>T (p.Cys26=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV000868440] Chr12:5044225 [GRCh38]
Chr12:5153391 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_002234.4(KCNA5):c.1153G>C (p.Gly385Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001071145] Chr12:5045300 [GRCh38]
Chr12:5154466 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.*244C>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114417] Chr12:5046233 [GRCh38]
Chr12:5155399 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.*558G>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114419] Chr12:5046547 [GRCh38]
Chr12:5155713 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.560G>A (p.Arg187Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001243560] Chr12:5044707 [GRCh38]
Chr12:5153873 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.347C>T (p.Ser116Phe) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001227586] Chr12:5044494 [GRCh38]
Chr12:5153660 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1661G>A (p.Arg554Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001241051] Chr12:5045808 [GRCh38]
Chr12:5154974 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001113035]|not provided [RCV000933940] Chr12:5045848 [GRCh38]
Chr12:5155014 [GRCh37]
Chr12:12p13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.-259_-258insAA insertion not provided [RCV001557018] Chr12:5043889..5043890 [GRCh38]
Chr12:5153055..5153056 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.92G>C (p.Gly31Ala) single nucleotide variant not provided [RCV001575709] Chr12:5044239 [GRCh38]
Chr12:5153405 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.601C>T (p.Arg201Cys) single nucleotide variant not provided [RCV000994784] Chr12:5044748 [GRCh38]
Chr12:5153914 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.904_905delinsCA (p.Gly302Gln) indel Atrial fibrillation, familial, 7 [RCV001065486] Chr12:5045051..5045052 [GRCh38]
Chr12:5154217..5154218 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598190] Chr12:5043712 [GRCh38]
Chr12:5152878 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.1789C>T (p.Arg597Trp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001113036] Chr12:5045936 [GRCh38]
Chr12:5155102 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.435C>A (p.Leu145=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110300] Chr12:5044582 [GRCh38]
Chr12:5153748 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.602G>A (p.Arg201His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110301] Chr12:5044749 [GRCh38]
Chr12:5153915 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.*782G>C single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110384] Chr12:5046771 [GRCh38]
Chr12:5155937 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.-210G>C single nucleotide variant Atrial fibrillation, familial, 7 [RCV001110958] Chr12:5043938 [GRCh38]
Chr12:5153104 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.115A>C (p.Thr39Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001045499] Chr12:5044262 [GRCh38]
Chr12:5153428 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.-52G>T single nucleotide variant Atrial fibrillation, familial, 7 [RCV001112962] Chr12:5044096 [GRCh38]
Chr12:5153262 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1303G>A (p.Gly435Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001038454] Chr12:5045450 [GRCh38]
Chr12:5154616 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.91G>C (p.Gly31Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001060176] Chr12:5044238 [GRCh38]
Chr12:5153404 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.705G>T (p.Gln235His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001060826] Chr12:5044852 [GRCh38]
Chr12:5154018 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.619G>A (p.Asp207Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001042394] Chr12:5044766 [GRCh38]
Chr12:5153932 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.231C>T (p.Pro77=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114320] Chr12:5044378 [GRCh38]
Chr12:5153544 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.268C>T (p.Arg90Trp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114321] Chr12:5044415 [GRCh38]
Chr12:5153581 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1286C>T (p.Ala429Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001058480] Chr12:5045433 [GRCh38]
Chr12:5154599 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.827G>A (p.Arg276Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001213392] Chr12:5044974 [GRCh38]
Chr12:5154140 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1573C>T (p.Arg525Trp) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001215002] Chr12:5045720 [GRCh38]
Chr12:5154886 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.70G>T (p.Ala24Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001230609] Chr12:5044217 [GRCh38]
Chr12:5153383 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.214G>C (p.Asp72His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001216632] Chr12:5044361 [GRCh38]
Chr12:5153527 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.442G>A (p.Asp148Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001231703] Chr12:5044589 [GRCh38]
Chr12:5153755 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.-85G>C single nucleotide variant Atrial fibrillation, familial, 7 [RCV001112961] Chr12:5044063 [GRCh38]
Chr12:5153229 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1A>G (p.Met1Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001064327] Chr12:5044148 [GRCh38]
Chr12:5153314 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.670del (p.Glu224fs) deletion Atrial fibrillation, familial, 7 [RCV001203686] Chr12:5044816 [GRCh38]
Chr12:5153982 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.186G>C (p.Ser62=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001114319] Chr12:5044333 [GRCh38]
Chr12:5153499 [GRCh37]
Chr12:12p13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_002234.4(KCNA5):c.156G>T (p.Lys52Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001230636] Chr12:5044303 [GRCh38]
Chr12:5153469 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.14T>C (p.Leu5Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001233547] Chr12:5044161 [GRCh38]
Chr12:5153327 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.964G>A (p.Asp322Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001037708] Chr12:5045111 [GRCh38]
Chr12:5154277 [GRCh37]
Chr12:12p13.32
uncertain significance
NC_000012.11:g.(?_4479509)_(6235003_?)dup duplication Episodic ataxia type 1 [RCV001294847] Chr12:4479509..6235003 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_002234.4(KCNA5):c.631G>C (p.Glu211Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001307949] Chr12:5044778 [GRCh38]
Chr12:5153944 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.962C>T (p.Ala321Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001314382] Chr12:5045109 [GRCh38]
Chr12:5154275 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1507G>A (p.Ala503Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001339469] Chr12:5045654 [GRCh38]
Chr12:5154820 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1756T>G (p.Cys586Gly) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001316407] Chr12:5045903 [GRCh38]
Chr12:5155069 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.617G>C (p.Gly206Ala) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001308871] Chr12:5044764 [GRCh38]
Chr12:5153930 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.886C>T (p.Pro296Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001337391] Chr12:5045033 [GRCh38]
Chr12:5154199 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.917C>A (p.Pro306Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001302539] Chr12:5045064 [GRCh38]
Chr12:5154230 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.61G>A (p.Glu21Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001303585] Chr12:5044208 [GRCh38]
Chr12:5153374 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1670G>A (p.Ser557Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001313516] Chr12:5045817 [GRCh38]
Chr12:5154983 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.700C>A (p.Arg234Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001337383] Chr12:5044847 [GRCh38]
Chr12:5154013 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.770T>C (p.Val257Ala) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001294816] Chr12:5044917 [GRCh38]
Chr12:5154083 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1199G>A (p.Arg400Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001309969] Chr12:5045346 [GRCh38]
Chr12:5154512 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1190C>T (p.Ala397Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001327121] Chr12:5045337 [GRCh38]
Chr12:5154503 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1148_1149inv (p.Gly383Asp) inversion Atrial fibrillation, familial, 7 [RCV001339390] Chr12:5045295..5045296 [GRCh38]
Chr12:5154461..5154462 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1242C>T (p.Ser414=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001414296] Chr12:5045389 [GRCh38]
Chr12:5154555 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1797C>G (p.Ser599=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001422349] Chr12:5045944 [GRCh38]
Chr12:5155110 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.32(chr12:3619010-5221363) copy number loss Global developmental delay [RCV001352670] Chr12:3619010..5221363 [GRCh37]
Chr12:12p13.32
pathogenic
NM_002234.4(KCNA5):c.1407C>T (p.Asp469=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001395434] Chr12:5045554 [GRCh38]
Chr12:5154720 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1486G>A (p.Val496Met) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001327361] Chr12:5045633 [GRCh38]
Chr12:5154799 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.403_405del (p.Leu135del) deletion Atrial fibrillation, familial, 7 [RCV001371081] Chr12:5044549..5044551 [GRCh38]
Chr12:5153715..5153717 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.897C>G (p.Asn299Lys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001359688] Chr12:5045044 [GRCh38]
Chr12:5154210 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.227G>T (p.Arg76Leu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001371395] Chr12:5044374 [GRCh38]
Chr12:5153540 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1493C>T (p.Ser498Leu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001364617] Chr12:5045640 [GRCh38]
Chr12:5154806 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.689A>G (p.Asn230Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001346689] Chr12:5044836 [GRCh38]
Chr12:5154002 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.968C>G (p.Pro323Arg) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001345924] Chr12:5045115 [GRCh38]
Chr12:5154281 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1636C>T (p.Pro546Ser) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001323090] Chr12:5045783 [GRCh38]
Chr12:5154949 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1138C>G (p.Gln380Glu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001346172] Chr12:5045285 [GRCh38]
Chr12:5154451 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1554dup (p.Phe519fs) duplication Atrial fibrillation, familial, 7 [RCV001372866] Chr12:5045700..5045701 [GRCh38]
Chr12:5154866..5154867 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1136A>C (p.Gln379Pro) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001359785] Chr12:5045283 [GRCh38]
Chr12:5154449 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1394C>G (p.Ser465Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001322524] Chr12:5045541 [GRCh38]
Chr12:5154707 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.471C>G (p.Asp157Glu) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001301061] Chr12:5044618 [GRCh38]
Chr12:5153784 [GRCh37]
Chr12:12p13.32
uncertain significance
NC_000012.11:g.(?_5154109_5190088del deletion Atrial fibrillation, familial, 7 [RCV001324434]   uncertain significance
NM_002234.4(KCNA5):c.1312A>G (p.Ile438Val) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001373373] Chr12:5045459 [GRCh38]
Chr12:5154625 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1363G>A (p.Ala455Thr) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001364591] Chr12:5045510 [GRCh38]
Chr12:5154676 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1043G>A (p.Ser348Asn) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001324631] Chr12:5045190 [GRCh38]
Chr12:5154356 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.688A>C (p.Asn230His) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001338102] Chr12:5044835 [GRCh38]
Chr12:5154001 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.1225C>T (p.Arg409Cys) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001318072] Chr12:5045372 [GRCh38]
Chr12:5154538 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.795C>T (p.Ile265=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001396148] Chr12:5044942 [GRCh38]
Chr12:5154108 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.68G>A (p.Arg23Gln) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001297689] Chr12:5044215 [GRCh38]
Chr12:5153381 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_002234.4(KCNA5):c.291G>A (p.Glu97=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001493832] Chr12:5044438 [GRCh38]
Chr12:5153604 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.804C>T (p.Cys268=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001495189] Chr12:5044951 [GRCh38]
Chr12:5154117 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.624G>A (p.Glu208=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001417104] Chr12:5044771 [GRCh38]
Chr12:5153937 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1149T>G (p.Gly383=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001464801] Chr12:5045296 [GRCh38]
Chr12:5154462 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.390C>T (p.Arg130=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001473614] Chr12:5044537 [GRCh38]
Chr12:5153703 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1638G>A (p.Pro546=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001482787] Chr12:5045785 [GRCh38]
Chr12:5154951 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.717C>T (p.Ile239=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001417446] Chr12:5044864 [GRCh38]
Chr12:5154030 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1329C>A (p.Ile443=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001491327] Chr12:5045476 [GRCh38]
Chr12:5154642 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.402G>A (p.Gln134=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001486773] Chr12:5044549 [GRCh38]
Chr12:5153715 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.690C>T (p.Asn230=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001492916] Chr12:5044837 [GRCh38]
Chr12:5154003 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1707C>A (p.Thr569=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001409842] Chr12:5045854 [GRCh38]
Chr12:5155020 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.852C>T (p.His284=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001426884] Chr12:5044999 [GRCh38]
Chr12:5154165 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.162C>T (p.Arg54=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001423744] Chr12:5044309 [GRCh38]
Chr12:5153475 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1539C>G (p.Pro513=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001436570] Chr12:5045686 [GRCh38]
Chr12:5154852 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.342G>C (p.Thr114=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001447661] Chr12:5044489 [GRCh38]
Chr12:5153655 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1608G>A (p.Lys536=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001425769] Chr12:5045755 [GRCh38]
Chr12:5154921 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.945C>A (p.Leu315=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001429668] Chr12:5045092 [GRCh38]
Chr12:5154258 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.651G>A (p.Glu217=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001411232] Chr12:5044798 [GRCh38]
Chr12:5153964 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.549C>T (p.Gly183=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001432235] Chr12:5044696 [GRCh38]
Chr12:5153862 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.-262GGC[1] microsatellite not provided [RCV001536343] Chr12:5043886..5043888 [GRCh38]
Chr12:5153052..5153054 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1485C>A (p.Ile495=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001473416] Chr12:5045632 [GRCh38]
Chr12:5154798 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1449C>T (p.Tyr483=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001450664] Chr12:5045596 [GRCh38]
Chr12:5154762 [GRCh37]
Chr12:12p13.32
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001682515] Chr12:5044456 [GRCh38]
Chr12:5153622 [GRCh37]
Chr12:12p13.32
benign
NM_002234.4(KCNA5):c.1287C>A (p.Ala429=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001453154] Chr12:5045434 [GRCh38]
Chr12:5154600 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.135G>A (p.Gly45=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001478482] Chr12:5044282 [GRCh38]
Chr12:5153448 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1596G>A (p.Pro532=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001438034]|not provided [RCV001552726] Chr12:5045743 [GRCh38]
Chr12:5154909 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1662G>C (p.Arg554=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001403272] Chr12:5045809 [GRCh38]
Chr12:5154975 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1386C>T (p.Thr462=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001486356] Chr12:5045533 [GRCh38]
Chr12:5154699 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1242C>G (p.Ser414=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001485074] Chr12:5045389 [GRCh38]
Chr12:5154555 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.561G>A (p.Arg187=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001501045] Chr12:5044708 [GRCh38]
Chr12:5153874 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.933G>A (p.Thr311=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001441514] Chr12:5045080 [GRCh38]
Chr12:5154246 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.897C>T (p.Asn299=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001401398] Chr12:5045044 [GRCh38]
Chr12:5154210 [GRCh37]
Chr12:12p13.32
likely benign
NM_002234.4(KCNA5):c.1764C>T (p.Val588=) single nucleotide variant Atrial fibrillation, familial, 7 [RCV001428294] Chr12:5045911 [GRCh38]
Chr12:5155077 [GRCh37]
Chr12:12p13.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6224 AgrOrtholog
COSMIC KCNA5 COSMIC
Ensembl Genes ENSG00000130037 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000252321 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252321 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot
  3.30.710.10 UniProtKB/Swiss-Prot
GTEx ENSG00000130037 GTEx
HGNC ID HGNC:6224 ENTREZGENE
Human Proteome Map KCNA5 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv1 UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv1.5 UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  T1-type_BTB UniProtKB/Swiss-Prot
  VG_K_chnl UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3741 UniProtKB/Swiss-Prot
NCBI Gene 3741 ENTREZGENE
OMIM 176267 OMIM
  612240 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PharmGKB KCNA5 RGD, PharmGKB
PRINTS KV15CHANNEL UniProtKB/Swiss-Prot
  KVCHANNEL UniProtKB/Swiss-Prot
  SHAKERCHANEL UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
UniProt KCNA5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q4KKT8 UniProtKB/Swiss-Prot
  Q4VAJ1 UniProtKB/Swiss-Prot
  Q4VAJ2 UniProtKB/Swiss-Prot
  Q9UDA4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNA5  potassium voltage-gated channel subfamily A member 5    potassium channel, voltage gated shaker related subfamily A, member 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNA5  potassium channel, voltage gated shaker related subfamily A, member 5    potassium voltage-gated channel, shaker-related subfamily, member 5  Symbol and/or name change 5135510 APPROVED