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Variant : CV496310 (NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=)) Homo sapiens

Symbol: CV496310
Name: NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=)
Condition: not specified [RCV000608885]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 01/15/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts
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.320169A>G
NC_000003.12:g.53810217A>G
NC_000003.11:g.53844244A>G
NM_000720.2:c.6171A>G
p.Thr2057Thr
NP_000711.1:p.Thr2057=
NM_001128839.3:c.6039A>G
NM_001128840.3:c.6111A>G
NM_000720.4:c.6171A>G
NP_001122312.1:p.Thr2037=
NP_001122311.1:p.Thr2013=
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,810,217 - 53,810,217CLINVAR
GRCh37353,844,244 - 53,844,244CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13536354
Created: 2018-05-08
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.