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Variant : CV496365 (NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)) Homo sapiens

Symbol: CV496365
Name: NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
Condition: Sinoatrial node dysfunction and deafness [RCV000625436]|not provided [RCV000729981]|not specified [RCV000613860]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 11/10/2017
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.233849G>A
NC_000003.12:g.53723897G>A
NC_000003.11:g.53757924G>A
NM_000720.2:c.2058G>A
p.Leu686Leu
NP_000711.1:p.Leu686=
NM_001128840.3:c.1998G>A
NM_000720.4:c.2058G>A
NM_000720.2:c.2058G>A
NC_000003.11:g.53757924G>A
NM_000720.3:c.2058G>A
NP_001122311.1:p.Leu666=
NP_001122312.1:p.Leu666=
NM_001128839.3:c.1998G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,723,897 - 53,723,897CLINVAR
GRCh37353,757,924 - 53,757,924CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13534127
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.