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Variant : CV496364 (NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile)) Homo sapiens

Symbol: CV496364
Name: NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile)
Condition: not specified [RCV000609114]
Clinical Significance: uncertain significance
Last Evaluated: 09/03/2017
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): NG_032999.1:g.233469G>A
NC_000003.12:g.53723517G>A
NC_000003.11:g.53757544G>A
NM_000720.2:c.1810G>A
NP_000711.1:p.Val604Ile
NM_001128839.3:c.1750G>A
NM_001128840.3:c.1750G>A
NM_000720.4:c.1810G>A
NM_000720.2:c.1810G>A
NC_000003.11:g.53757544G>A
NP_001122311.1:p.Val584Ile
NP_001122312.1:p.Val584Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,723,517 - 53,723,517CLINVAR
GRCh37353,757,544 - 53,757,544CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13536518
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.