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Variant : CV496780 (NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)) Homo sapiens

Symbol: CV496780
Name: NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
Condition: not specified [RCV000609862]
Clinical Significance: uncertain significance
Last Evaluated: 08/24/2016
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.263549A>G
NC_000003.12:g.53753597A>G
NC_000003.11:g.53787624A>G
NM_000720.2:c.3761A>G
NP_000711.1:p.Asn1254Ser
NM_001128839.3:c.3701A>G
NM_001128840.3:c.3701A>G
NM_000720.4:c.3761A>G
NM_000720.2:c.3761A>G
NC_000003.11:g.53787624A>G
NP_001122311.1:p.Asn1234Ser
NP_001122312.1:p.Asn1234Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,753,597 - 53,753,597CLINVAR
GRCh37353,787,624 - 53,787,624CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13537053
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.