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Variant : CV490932 (NM_000720.4(CACNA1D):c.5499C>T (p.Ser1833=)) Homo sapiens

Symbol: CV490932
Name: NM_000720.4(CACNA1D):c.5499C>T (p.Ser1833=)
Condition: not specified [RCV000597137]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.313378C>T
NC_000003.12:g.53803426C>T
NP_000711.1:p.Ser1833=
NC_000003.11:g.53837453C>T
NM_001128840.3:c.5439C>T
NM_000720.4:c.5499C>T
NP_001122311.1:p.Ser1789=
NP_001122312.1:p.Ser1813=
NM_001128839.3:c.5367C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,803,426 - 53,803,426CLINVAR
GRCh37353,837,453 - 53,837,453CLINVAR
Cytogenetic Map33p21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13518220
Created: 2018-04-10
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.