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Variant : CV407264 (NM_000722.4(CACNA2D1):c.2776G>C (p.Ala926Pro)) Homo sapiens

Symbol: CV407264
Name: NM_000722.4(CACNA2D1):c.2776G>C (p.Ala926Pro)
Condition: not specified [RCV000486444]
Clinical Significance: uncertain significance
Last Evaluated: 10/24/2016
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_437:g.484656G>C
NG_009358.2:g.484656G>C
NC_000007.14:g.81964060C>G
NC_000007.13:g.81593376C>G
NP_000713.2:p.Ala926Pro
LRG_437t1:c.2776G>C
NM_000722.4:c.2776G>C
NM_001366867.1:c.2812G>C
NM_000722.2:c.2776G>C
NP_001353796.1:p.Ala938Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,964,060 - 81,964,060CLINVAR
GRCh37781,593,376 - 81,593,376CLINVAR
Cytogenetic Map77q21.11CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12902162
Created: 2017-05-09
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.