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

Variant : CV501832 (NM_000722.4(CACNA2D1):c.1273-24_1273-22dup) Homo sapiens

Symbol: CV501832
Name: NM_000722.4(CACNA2D1):c.1273-24_1273-22dup
Condition: not specified [RCV000616941]
Clinical Significance: benign
Last Evaluated: 03/16/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1   CACNA2D1-AS1  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_000722.2:c.1273-12_1273-11insTTT
LRG_437t1:c.1273-12_1273-11insTTT
NM_000722.4:c.1273-24_1273-22dup
NM_001366867.1:c.1273-24_1273-22dup
NG_009358.2:g.436459_436461dup
NC_000007.14:g.82012265_82012267dup
NC_000007.13:g.81641581_81641583dup
LRG_437:g.436459_436461dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,012,254 - 82,012,255CLINVAR
GRCh37781,641,570 - 81,641,571CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13542011
Created: 2018-05-08
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.