RGD:405033458 Rat Genome Database

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Variant: RGD:405033458 -  Homo sapiens

RGD ID: 405033458
ClinVar ID: CV3093003
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 1,268,953
GRCh38 16 1,218,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005407.2:c.5870-17A>G
NM_021098.3:c.5888-17A>G
NG_012647.1:g.70713A>G
NC_000016.10:g.1218953A>G
More... 		07/12/2023 intron variant likely benign ALDOSTERONISM, PRIMARY, AND HYPERTENSION; EIG; FH IV; Generalised epilepsy; Hyperaldosteronism, familial, type IV
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CACNA1H
Accession:NM_021098
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_001005407
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_005255652
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720967
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720968
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720963
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720964
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720965
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522727
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522724
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023819
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023820
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023821
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_047434836
Location:INTRON

Gene Symbol:CACNA1H
Accession:XR_002957850
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003786354 CLINVAR
MedGen C0270850 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 600669 CLINVAR
  607904 CLINVAR
  617027 CLINVAR
SNOMED CT 36803009 CLINVAR