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Variant : CV502212 (NM_000722.4(CACNA2D1):c.178-21dup) Homo sapiens

Symbol: CV502212
Name: NM_000722.4(CACNA2D1):c.178-21dup
Condition: not specified [RCV000614151]
Clinical Significance: benign
Last Evaluated: 03/17/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_000722.2:c.178-12dupT
LRG_437t1:c.178-12dup
NM_001302890.2:c.178-21dup
NM_001366867.1:c.178-21dup
NM_000722.2:c.178-12dupT
NG_009358.2:g.113453dup
NM_000722.4:c.178-21dup
NC_000007.14:g.82335272dup
NC_000007.13:g.81964588dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,335,263 - 82,335,263CLINVAR
GRCh37781,964,579 - 81,964,579CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13540048
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.