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Variant : CV229114 (NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=)) Homo sapiens

Symbol: CV229114
Name: NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=)
Condition: not specified [RCV000220955]
Clinical Significance: likely benign
Last Evaluated: 04/28/2015
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.233807G>T
NC_000003.12:g.53723855G>T
NC_000003.11:g.53757882G>T
NM_000720.2:c.2016G>T
p.Ser672Ser
NP_000711.1:p.Ser672=
NM_001128840.3:c.1956G>T
NM_000720.4:c.2016G>T
NM_001128839.3:c.1956G>T
NM_000720.2:c.2016G>T
NC_000003.11:g.53757882G>T
NP_001122311.1:p.Ser652=
NP_001122312.1:p.Ser652=
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,723,855 - 53,723,855CLINVAR
GRCh37353,757,882 - 53,757,882CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11094356
Created: 2016-06-07
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.