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Variant : CV501840 (NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=)) Homo sapiens

Symbol: CV501840
Name: NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=)
Condition: not specified [RCV000609605]
Clinical Significance: likely benign
Last Evaluated: 12/18/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_437:g.363934T>A
NG_009358.2:g.363934T>A
NC_000007.14:g.82084782A>T
NC_000007.13:g.81714098A>T
NM_000722.2:c.645T>A
NP_000713.2:p.Ala215=
LRG_437t1:c.645T>A
NM_000722.4:c.645T>A
NM_001302890.2:c.645T>A
NM_001366867.1:c.645T>A
NP_001289819.1:p.Ala215=
NP_001353796.1:p.Ala215=
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,084,782 - 82,084,782CLINVAR
GRCh37781,714,098 - 81,714,098CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13536873
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.