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Variant : CV496371 (NM_001128840.3(CACNA1D):c.6193-11T>C) Homo sapiens

Symbol: CV496371
Name: NM_001128840.3(CACNA1D):c.6193-11T>C
Condition: not specified [RCV000614263]
Clinical Significance: benign
Last Evaluated: 01/20/2018
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.321054T>C
NC_000003.12:g.53811102T>C
NC_000003.11:g.53845129T>C
NM_000720.2:c.6253-11T>C
NM_001128839.3:c.6121-11T>C
NM_001128840.3:c.6193-11T>C
NM_000720.4:c.6253-11T>C
NM_000720.2:c.6253-11T>C
NC_000003.11:g.53845129T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,811,102 - 53,811,102CLINVAR
GRCh37353,845,129 - 53,845,129CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13540123
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.