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Variant : CV502210 (NM_000722.4(CACNA2D1):c.659-19C>T) Homo sapiens

Symbol: CV502210
Name: NM_000722.4(CACNA2D1):c.659-19C>T
Condition: not specified [RCV000612757]
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.382173C>T
NG_009358.2:g.382173C>T
NC_000007.14:g.82066543G>A
NC_000007.13:g.81695859G>A
NM_000722.2:c.659-19C>T
LRG_437t1:c.659-19C>T
NM_000722.4:c.659-19C>T
NM_001302890.2:c.659-19C>T
NM_001366867.1:c.659-19C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,066,543 - 82,066,543CLINVAR
GRCh37781,695,859 - 81,695,859CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13539066
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.