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Variant : CV659930 (NM_001128840.3(CACNA1D):c.5585+63C>T) Homo sapiens

Symbol: CV659930
Name: NM_001128840.3(CACNA1D):c.5585+63C>T
Condition: not provided [RCV000842746]
Clinical Significance: benign
Last Evaluated: 06/16/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001128839.3:c.5513+63C>T
NM_001128840.3:c.5585+63C>T
NM_000720.4:c.5645+63C>T
NG_032999.1:g.313587C>T
NC_000003.12:g.53803635C>T
NC_000003.11:g.53837662C>T
NM_000720.2:c.5645+63C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,803,635 - 53,803,635CLINVAR
GRCh37353,837,662 - 53,837,662CLINVAR
Cytogenetic Map33p21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14744416
Created: 2019-09-06
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.