RGD:13500445 Rat Genome Database

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Variant: RGD:13500445 -  Homo sapiens

RGD ID: 13500445
RS ID: rs59027578
ClinVar ID: CV464991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,263,939
GRCh38 16 1,213,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012647.1:g.65699C>T
NC_000016.10:g.1213939C>T
NC_000016.9:g.1263939C>T
NM_021098.3:c.4929+8C>T
More... 		07/22/2021 intron variant benign|likely benign ALDOSTERONISM, PRIMARY, AND HYPERTENSION; EIG; Epilepsy, childhood absence 6; FH IV; Generalised epilepsy; Hyperaldosteronism, familial, type IV; none provided
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:XM_006720968
Location:3UTRS;INTRON

Gene Symbol:CACNA1H
Accession:XM_006720967
Location:3UTRS;INTRON

Gene Symbol:CACNA1H
Accession:XM_006720964
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522727
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_047434836
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_005255652
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023819
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_021098
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_001005407
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720963
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023821
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522724
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023820
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720965
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711106 CLINVAR
  RCV001083004 CLINVAR
  RCV002490984 CLINVAR
dbSNP (RS) rs59027578 CLINVAR
MedGen C0270850 CLINVAR
  C2749872 CLINVAR
  C3661900 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 600669 CLINVAR
  607904 CLINVAR
  611942 CLINVAR
  617027 CLINVAR
SNOMED CT 36803009 CLINVAR