Annotation Detail

Information
Associated Genes
ANK2
Associated Variants
ANK2 p.Lys3976Glu (p.K3976E) ( ENST00000264366.10, ENST00000357077.9, ENST00000394537.7, ENST00000503423.6, ENST00000505342.6, ENST00000506344.6, ENST00000506722.5, ENST00000509550.5, ENST00000671704.1, ENST00000671727.1, ENST00000671756.1, ENST00000671762.1, ENST00000671793.1, ENST00000671809.1, ENST00000671825.1, ENST00000671854.1, ENST00000671893.1, ENST00000671906.1, ENST00000671951.1, ENST00000671971.1, ENST00000672045.1, ENST00000672068.1, ENST00000672088.1, ENST00000672090.1, ENST00000672177.1, ENST00000672209.1, ENST00000672221.1, ENST00000672240.1, ENST00000672246.1, ENST00000672251.1, ENST00000672312.1, ENST00000672315.1, ENST00000672350.1, ENST00000672356.1, ENST00000672362.1, ENST00000672366.1, ENST00000672402.1, ENST00000672411.1, ENST00000672502.1, ENST00000672684.1, ENST00000672696.1, ENST00000672731.1, ENST00000672759.1, ENST00000672779.1, ENST00000672793.1, ENST00000672830.1, ENST00000672854.1, ENST00000672880.1, ENST00000672915.1, ENST00000672930.1, ENST00000672934.1, ENST00000672955.1, ENST00000672965.1, ENST00000672986.1, ENST00000672990.1, ENST00000673044.1, ENST00000673048.1, ENST00000673109.1, ENST00000673231.1, ENST00000673240.1, ENST00000673255.1, ENST00000673298.1, ENST00000673334.1, ENST00000673353.1, ENST00000673363.1, ENST00000673430.1, ENST00000673453.1, ENST00000673536.1, ENST00000673546.1, ENST00000673555.1, ENST00000673573.1, ENST00000705785.1 )
ANK2 p.Lys3976Glu (p.K3976E) ( ENST00000264366.10, ENST00000357077.9, ENST00000394537.7, ENST00000503423.6, ENST00000505342.6, ENST00000506344.6, ENST00000506722.5, ENST00000509550.5, ENST00000671704.1, ENST00000671727.1, ENST00000671756.1, ENST00000671762.1, ENST00000671793.1, ENST00000671809.1, ENST00000671825.1, ENST00000671854.1, ENST00000671893.1, ENST00000671906.1, ENST00000671951.1, ENST00000671971.1, ENST00000672045.1, ENST00000672068.1, ENST00000672088.1, ENST00000672090.1, ENST00000672177.1, ENST00000672209.1, ENST00000672221.1, ENST00000672240.1, ENST00000672246.1, ENST00000672251.1, ENST00000672312.1, ENST00000672315.1, ENST00000672350.1, ENST00000672356.1, ENST00000672362.1, ENST00000672366.1, ENST00000672402.1, ENST00000672411.1, ENST00000672502.1, ENST00000672684.1, ENST00000672696.1, ENST00000672731.1, ENST00000672759.1, ENST00000672779.1, ENST00000672793.1, ENST00000672830.1, ENST00000672854.1, ENST00000672880.1, ENST00000672915.1, ENST00000672930.1, ENST00000672934.1, ENST00000672955.1, ENST00000672965.1, ENST00000672986.1, ENST00000672990.1, ENST00000673044.1, ENST00000673048.1, ENST00000673109.1, ENST00000673231.1, ENST00000673240.1, ENST00000673255.1, ENST00000673298.1, ENST00000673334.1, ENST00000673353.1, ENST00000673363.1, ENST00000673430.1, ENST00000673453.1, ENST00000673536.1, ENST00000673546.1, ENST00000673555.1, ENST00000673573.1, ENST00000705785.1 )
Associated Disease
Wolff-Parkinson-White pattern
Source Database
ClinVar
Description
NM_001148.6(ANK2):c.11692A>G (p.Lys3898Glu) AND Wolff-Parkinson-White pattern
ClinVar Allele ID
480687
ClinVar RefSeq Alternation Syntax
NM_001386156.1:c.5176A>G
ClinVar RefSeq Alternation Syntax
NM_001354279.2:c.3001A>G
ClinVar RefSeq Alternation Syntax
NM_001386153.1:c.5218A>G
ClinVar RefSeq Alternation Syntax
NM_001148.6:c.11692A>G
ClinVar RefSeq Alternation Syntax
NM_001354228.2:c.5431A>G
ClinVar RefSeq Alternation Syntax
NM_001354245.2:c.5275A>G
ClinVar RefSeq Alternation Syntax
NM_001386146.1:c.5311A>G
ClinVar RefSeq Alternation Syntax
NM_001354260.2:c.5152A>G
ClinVar RefSeq Alternation Syntax
NM_001354278.2:c.2965A>G
ClinVar RefSeq Alternation Syntax
NM_001354239.2:c.5500A>G
ClinVar RefSeq Alternation Syntax
NM_001386144.1:c.5575A>G
ClinVar RefSeq Alternation Syntax
NM_001386174.1:c.11926A>G
ClinVar RefSeq Alternation Syntax
NM_001354243.2:c.5467A>G
ClinVar RefSeq Alternation Syntax
NM_001354246.2:c.5434A>G
ClinVar RefSeq Alternation Syntax
NM_001386148.2:c.5422A>G
ClinVar RefSeq Alternation Syntax
NM_001354232.2:c.5566A>G
ClinVar RefSeq Alternation Syntax
NM_001354281.2:c.2965A>G
ClinVar RefSeq Alternation Syntax
NM_001354268.2:c.5239A>G
ClinVar RefSeq Alternation Syntax
NM_001386167.1:c.1930A>G
ClinVar RefSeq Alternation Syntax
NM_001354280.2:c.2986A>G
ClinVar RefSeq Alternation Syntax
NM_001386157.1:c.5053A>G
ClinVar RefSeq Alternation Syntax
NM_001354258.2:c.5338A>G
ClinVar RefSeq Alternation Syntax
NM_001354254.2:c.5386A>G
ClinVar RefSeq Alternation Syntax
NM_001127493.3:c.5410A>G
ClinVar RefSeq Alternation Syntax
NM_001386175.1:c.11902A>G
ClinVar RefSeq Alternation Syntax
NM_001354244.2:c.5464A>G
ClinVar RefSeq Alternation Syntax
NM_001354237.2:c.5515A>G
ClinVar RefSeq Alternation Syntax
NM_001354273.2:c.5137A>G
ClinVar RefSeq Alternation Syntax
NM_001354242.2:c.5479A>G
ClinVar RefSeq Alternation Syntax
NM_001386152.1:c.5412+3366A>G
ClinVar RefSeq Alternation Syntax
NM_001354261.2:c.5296A>G
ClinVar RefSeq Alternation Syntax
NM_001354277.2:c.5053A>G
ClinVar RefSeq Alternation Syntax
NM_001354230.2:c.5416A>G
ClinVar RefSeq Alternation Syntax
NM_001354236.2:c.5335A>G
ClinVar RefSeq Alternation Syntax
NM_001386142.1:c.11458A>G
ClinVar RefSeq Alternation Syntax
NM_001386151.1:c.5245A>G
ClinVar RefSeq Alternation Syntax
NM_001386161.1:c.5371A>G
ClinVar RefSeq Alternation Syntax
NM_001354271.2:c.5152A>G
ClinVar RefSeq Alternation Syntax
NM_001386160.1:c.5281A>G
ClinVar RefSeq Alternation Syntax
NM_001354282.2:c.3001A>G
ClinVar RefSeq Alternation Syntax
NM_001386187.2:c.5302A>G
ClinVar RefSeq Alternation Syntax
NM_001354231.2:c.5572A>G
ClinVar RefSeq Alternation Syntax
NM_001354257.2:c.5176A>G
ClinVar RefSeq Alternation Syntax
NM_001386158.1:c.4954A>G
ClinVar RefSeq Alternation Syntax
NM_001354256.2:c.5371A>G
ClinVar RefSeq Alternation Syntax
NM_001354241.2:c.5482A>G
ClinVar RefSeq Alternation Syntax
NM_001354265.2:c.5434A>G
ClinVar RefSeq Alternation Syntax
NM_001354264.2:c.5272A>G
ClinVar RefSeq Alternation Syntax
NM_001386150.1:c.5311A>G
ClinVar RefSeq Alternation Syntax
NM_001386186.2:c.5422A>G
ClinVar RefSeq Alternation Syntax
NM_001354240.2:c.5482A>G
ClinVar RefSeq Alternation Syntax
NM_001354269.3:c.5224A>G
ClinVar RefSeq Alternation Syntax
NM_001386147.1:c.5263A>G
ClinVar RefSeq Alternation Syntax
NM_001354253.2:c.5212A>G
ClinVar RefSeq Alternation Syntax
NM_001354225.2:c.5449A>G
ClinVar RefSeq Alternation Syntax
NM_001354276.2:c.5251A>G
ClinVar RefSeq Alternation Syntax
NM_001386149.1:c.5218A>G
ClinVar RefSeq Alternation Syntax
NM_001386154.1:c.5203A>G
ClinVar RefSeq Alternation Syntax
NM_001354266.2:c.5251A>G
ClinVar RefSeq Alternation Syntax
NM_001354267.2:c.5251A>G
ClinVar RefSeq Alternation Syntax
NM_001354270.2:c.5212A>G
ClinVar RefSeq Alternation Syntax
NM_001354275.2:c.5275A>G
ClinVar RefSeq Alternation Syntax
NM_001354262.2:c.5275A>G
ClinVar RefSeq Alternation Syntax
NM_001386162.1:c.5251A>G
ClinVar RefSeq Alternation Syntax
NM_001354249.2:c.5251A>G
ClinVar RefSeq Alternation Syntax
NM_001386166.1:c.8092A>G
ClinVar RefSeq Alternation Syntax
NM_020977.5:c.5437A>G
ClinVar RefSeq Alternation Syntax
NM_001354235.2:c.5527A>G
ClinVar RefSeq Alternation Syntax
NM_001354272.2:c.5308A>G
ClinVar RefSeq Alternation Syntax
NM_001354252.2:c.5407A>G
ClinVar RefSeq Alternation Syntax
NM_001354255.2:c.5374A>G
ClinVar RefSeq Alternation Syntax
NM_001354274.2:c.5296A>G
ClinVar RefSeq Alternation Syntax
NM_001386143.1:c.5467A>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2017-07-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000656149
ClinVar Disease
Wolff-Parkinson-White pattern
Observed Origin Sample
de novo
Drugs