Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV369286 (NM_000722.4(CACNA2D1):c.1873+14A>T) Homo sapiens

Symbol: CV369286
Name: NM_000722.4(CACNA2D1):c.1873+14A>T
Condition: not specified [RCV000438901]
Clinical Significance: likely benign
Last Evaluated: 11/30/2016
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.464095A>T
NG_009358.2:g.464095A>T
NC_000007.14:g.81984621T>A
NC_000007.13:g.81613937T>A
NM_000722.2:c.1873+14A>T
LRG_437t1:c.1873+14A>T
NM_000722.4:c.1873+14A>T
NM_001366867.1:c.1930+14A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38781,984,621 - 81,984,621CLINVAR
GRCh37781,613,937 - 81,613,937CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12844941
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.