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Variant : CV76974 (NM_001128840.3(CACNA1D):c.1220+678G>A) Homo sapiens

Symbol: CV76974
Name: NM_001128840.3(CACNA1D):c.1220+678G>A
Condition: Primary aldosteronism, seizures, and neurologic abnormalities [RCV000056307]|not provided [RCV000122469]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 01/14/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|missense variant|intron|intron variant
Evidence: literature only|not provided|research
HGVS Name(s): NG_032999.1:g.183756G>A
NC_000003.12:g.53673804G>A
NC_000003.11:g.53707831G>A
NM_000720.2:c.1208G>A
NP_000711.1:p.Gly403Asp
NM_000720.4:c.1208G>A
NM_000720.3:c.1208G>A
NM_001128839.3:c.1220+678G>A
NM_001128840.3:c.1220+678G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,673,804 - 53,673,804CLINVAR
GRCh37353,707,831 - 53,707,831CLINVAR
Cytogenetic Map33p21.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8573551
Created: 2014-05-13
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.