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Variant : CV501829 (NM_000722.4(CACNA2D1):c.2054-20A>G) Homo sapiens

Symbol: CV501829
Name: NM_000722.4(CACNA2D1):c.2054-20A>G
Condition: not specified [RCV000607571]
Clinical Significance: likely benign
Last Evaluated: 10/20/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_437:g.476832A>G
NG_009358.2:g.476832A>G
NC_000007.14:g.81971884T>C
NC_000007.13:g.81601200T>C
NM_000722.2:c.2054-20A>G
LRG_437t1:c.2054-20A>G
NM_000722.4:c.2054-20A>G
NM_001366867.1:c.2090-20A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,971,884 - 81,971,884CLINVAR
GRCh37781,601,200 - 81,601,200CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13535153
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.