RGD:152124206 Rat Genome Database

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Variant: RGD:152124206 -  Homo sapiens

RGD ID: 152124206
RS ID: rs746670693
ClinVar ID: CV1665648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,261,622
GRCh38 16 1,211,622
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.4476+16G>A
NM_021098.3:c.4476+16G>A
NG_012647.1:g.63382G>A
NC_000016.10:g.1211622G>A
More... 		03/18/2021 intron variant likely benign ALDOSTERONISM, PRIMARY, AND HYPERTENSION; AllHighlyPenetrant; 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 RCV002198461 CLINVAR
  RCV003479414 CLINVAR
dbSNP (RS) rs746670693 CLINVAR
MedGen C0270850 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 600669 CLINVAR
  607904 CLINVAR
  617027 CLINVAR
SNOMED CT 36803009 CLINVAR