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Variant : CV406352 (NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu)) Homo sapiens

Symbol: CV406352
Name: NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu)
Condition: not specified [RCV000480244]
Clinical Significance: uncertain significance
Last Evaluated: 01/25/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001128840.3:c.6215G>A
NM_000720.4:c.6275G>A
NP_001122312.1:p.Gly2072Glu
NG_032999.1:g.321087G>A
NC_000003.12:g.53811135G>A
NC_000003.11:g.53845162G>A
NM_000720.2:c.6275G>A
NP_000711.1:p.Gly2092Glu
NP_001122311.1:p.Gly2048Glu
NM_001128839.3:c.6143G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,811,135 - 53,811,135CLINVAR
GRCh37353,845,162 - 53,845,162CLINVAR
Cytogenetic Map33p21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12899457
Created: 2017-05-09
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.