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Variant : CV229138 (NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=)) Homo sapiens

Symbol: CV229138
Name: NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=)
Condition: not specified [RCV000220198]
Clinical Significance: benign
Last Evaluated: 05/09/2017
Review Status: criteria provided, multiple submitters, no conflicts|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.321220C>T
NC_000003.12:g.53811268C>T
NC_000003.11:g.53845295C>T
NM_000720.2:c.6408C>T
p.Asn2136Asn
NP_000711.1:p.Asn2136=
NM_001128839.3:c.6276C>T
NM_001128840.3:c.6348C>T
NM_000720.4:c.6408C>T
NP_001122311.1:p.Asn2092=
NP_001122312.1:p.Asn2116=
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,811,268 - 53,811,268CLINVAR
GRCh37353,845,295 - 53,845,295CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11093765
Created: 2016-06-07
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.