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Variant : CV511284 (NM_001199861.2(KCNAB2):c.436C>T (p.Arg146Ter)) Homo sapiens

Symbol: CV511284
Name: NM_001199861.2(KCNAB2):c.436C>T (p.Arg146Ter)
Condition: Inborn genetic diseases [RCV000623902]
Clinical Significance: uncertain significance
Last Evaluated: 09/26/2017
Review Status: criteria provided, single submitter
Related Genes: KCNAB2  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001199861.2:c.436C>T
NM_003636.4:c.436C>T
NM_001199862.2:c.535C>T
NG_047091.1:g.103112C>T
NC_000001.11:g.6090409C>T
NC_000001.10:g.6150469C>T
NP_001186790.1:p.Arg146Ter
NP_001186791.1:p.Arg179Ter
NM_001199863.2:c.235C>T
NM_172130.3:c.394C>T
NM_001199860.2:c.436C>T
NP_742128.1:p.Arg132Ter
NM_001199862.1:c.535C>T
NP_001186789.1:p.Arg146Ter
NP_003627.1:p.Arg146Ter
NP_001186792.1:p.Arg79Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3816,090,409 - 6,090,409CLINVAR
GRCh3716,150,469 - 6,150,469CLINVAR
Cytogenetic Map11p36.31CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13532087
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.