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Variant : CV587924 (NM_001128840.3(CACNA1D):c.5708G>A (p.Arg1903Gln)) Homo sapiens

Symbol: CV587924
Name: NM_001128840.3(CACNA1D):c.5708G>A (p.Arg1903Gln)
Condition: not provided [RCV000732824]
Clinical Significance: uncertain significance
Last Evaluated: 04/11/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.315057G>A
NC_000003.12:g.53805105G>A
NC_000003.11:g.53839132G>A
NP_000711.1:p.Arg1923Gln
NM_001128839.3:c.5636G>A
NM_001128840.3:c.5708G>A
NM_000720.4:c.5768G>A
NP_001122311.1:p.Arg1879Gln
NP_001122312.1:p.Arg1903Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,805,105 - 53,805,105CLINVAR
GRCh37353,839,132 - 53,839,132CLINVAR
Cytogenetic Map33p21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13836646
Created: 2019-01-08
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.