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Variant : CV654344 (NC_000003.12:g.53811364G>A) Homo sapiens

Symbol: CV654344
Name: NC_000003.12:g.53811364G>A
Condition: not specified [RCV000825712]
Clinical Significance: likely benign
Last Evaluated: 08/23/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: variation (SO:0001059)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.53811364G>A
NC_000003.11:g.53845391G>A
NM_000720.2:c.6504G>A
p.Glu2168Glu
Position No map positions available.
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14704344
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.