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Variant : CV662984 (NM_000722.4(CACNA2D1):c.1956-235_1956-234insACCTAAT) Homo sapiens

Symbol: CV662984
Name: NM_000722.4(CACNA2D1):c.1956-235_1956-234insACCTAAT
Condition: not provided [RCV000838041]
Clinical Significance: benign
Last Evaluated: 06/19/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: insertion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_000722.4:c.1956-235_1956-234insACCTAAT
NM_001366867.1:c.1992-235_1992-234insACCTAAT
NG_009358.2:g.473929_473930insCTAATAC
NC_000007.14:g.81974786_81974787insGTATTAG
NC_000007.14:g.81974788_81974789insATTAGGT
NC_000007.13:g.81604104_81604105insATTAGGT
NM_000722.2:c.1956-235_1956-234insCTAATAC
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,974,786 - 81,974,787CLINVAR
GRCh37781,604,102 - 81,604,103CLINVAR
Cytogenetic Map77q21.11CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14735504
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.