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Variant : CV496740 (NM_001128840.3(CACNA1D):c.1478+319G>A) Homo sapiens

Symbol: CV496740
Name: NM_001128840.3(CACNA1D):c.1478+319G>A
Condition: not specified [RCV000607517]
Clinical Significance: likely benign
Last Evaluated: 01/04/2018
Review Status: criteria provided, multiple submitters, no conflicts
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.228659G>A
NC_000003.12:g.53718707G>A
NC_000003.11:g.53752734G>A
NM_000720.2:c.1504G>A
NP_000711.1:p.Ala502Thr
NM_001128840.3:c.1478+319G>A
NM_000720.4:c.1504G>A
NM_000720.2:c.1504G>A
NC_000003.11:g.53752734G>A
NM_001128839.3:c.1478+319G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,718,707 - 53,718,707CLINVAR
GRCh37353,752,734 - 53,752,734CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13535042
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.