RGD:28875350 Rat Genome Database

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Variant: RGD:28875350 -  Homo sapiens

RGD ID: 28875350
RS ID: rs2623999
ClinVar ID: CV874114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 73,614,114
GRCh38 15 73,321,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005477.3:c.*708A>G
NC_000015.9:g.73614114T>C
NM_005477.2:c.*708A>G
NG_009063.1:g.52492A>G
More... 		01/13/2018 3 prime utr variant benign ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; SICK SINUS SYNDROME 2; SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCN4
Accession:NM_005477
Location:3UTRS;EXON

Gene Symbol:HCN4
Accession:XM_011521148
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001115862 CLINVAR
dbSNP (RS) rs2623999 CLINVAR
MedGen C1834144 CLINVAR
NCBI Gene HCN4 CLINVAR
OMIM 163800 CLINVAR
  605206 CLINVAR