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Variant : CV660251 (NM_001128840.3(CACNA1D):c.623+94T>C) Homo sapiens

Symbol: CV660251
Name: NM_001128840.3(CACNA1D):c.623+94T>C
Condition: not provided [RCV000842903]
Clinical Significance: benign
Last Evaluated: 06/14/2018
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_000720.4:c.623+94T>C
NM_001128839.3:c.623+94T>C
NM_001128840.3:c.623+94T>C
NG_032999.1:g.160964T>C
NC_000003.12:g.53651012T>C
NC_000003.11:g.53685039T>C
NM_000720.2:c.623+94T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,651,012 - 53,651,012CLINVAR
GRCh37353,685,039 - 53,685,039CLINVAR
Cytogenetic Map33p21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14744673
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.