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Variant : CV509905 (NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=)) Homo sapiens

Symbol: CV509905
Name: NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=)
Condition: Cardiovascular phenotype [RCV000620772]
Clinical Significance: likely benign
Last Evaluated: 01/19/2017
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): NM_000722.4:c.2058C>T
NM_001366867.1:c.2094C>T
NP_001353796.1:p.Asn698=
LRG_437:g.476856C>T
NM_000722.2:c.2058C>T
NG_009358.2:g.476856C>T
NC_000007.14:g.81971860G>A
NP_000713.2:p.Asn686=
NC_000007.13:g.81601176G>A
LRG_437t1:c.2058C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,971,860 - 81,971,860CLINVAR
GRCh37781,601,176 - 81,601,176CLINVAR
Cytogenetic Map77q21.11CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13528481
Created: 2018-05-08
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.