RGD:11659088 Rat Genome Database

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Variant: RGD:11659088 -  Homo sapiens

RGD ID: 11659088
RS ID: rs886049326
ClinVar ID: CV324566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130007664  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 33,049,716
GRCh38 12 32,896,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_398t1:c.-51C>T
LRG_398:g.5065C>T
NG_009000.1:g.5065C>T
NC_000012.12:g.32896782G>A
More... 		01/12/2018 5 prime utr variant uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000354432 CLINVAR
dbSNP (RS) rs886049326 CLINVAR
MedGen C1836906 CLINVAR
NCBI Gene LOC130007664 CLINVAR
  PKP2 CLINVAR
OMIM 602861 CLINVAR
  609040 CLINVAR