RGD:405128519 Rat Genome Database

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Variant: RGD:405128519 -  Homo sapiens

RGD ID: 405128519
ClinVar ID: CV3110115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,257,340
GRCh38 16 1,207,340
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.2973C>T
NM_021098.3:c.2973C>T
NG_012647.1:g.59100C>T
NC_000016.10:g.1207340C>T
More... 		02/21/2023 synonymous 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003815652 CLINVAR
MedGen C0270850 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 600669 CLINVAR
  607904 CLINVAR
  617027 CLINVAR
SNOMED CT 36803009 CLINVAR