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Variant : CV229133 (NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr)) Homo sapiens

Symbol: CV229133
Name: NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr)
Condition: not specified [RCV000220515]
Clinical Significance: uncertain significance
Last Evaluated: 01/15/2016
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.320102G>C
NC_000003.12:g.53810150G>C
NC_000003.11:g.53844177G>C
NM_000720.2:c.6104G>C
NP_000711.1:p.Ser2035Thr
NM_001128839.3:c.5972G>C
NM_001128840.3:c.6044G>C
NM_000720.4:c.6104G>C
NM_000720.2:c.6104G>C
NC_000003.11:g.53844177G>C
NP_001122311.1:p.Ser1991Thr
NP_001122312.1:p.Ser2015Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,810,150 - 53,810,150CLINVAR
GRCh37353,844,177 - 53,844,177CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11094021
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.