RGD:405189253 Rat Genome Database

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Variant: RGD:405189253 -  Homo sapiens

RGD ID: 405189253
ClinVar ID: CV3156698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 22,063,766
GRCh38 12 21,910,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_377t1:c.1158T>A
LRG_377t2:c.1158T>A
NM_001377273.1:c.1158T>A
NM_005691.4:c.1158T>A
More...
08/03/2023 synonymous variant likely benign CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003859576 CLINVAR
MedGen C1837839 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 601439 CLINVAR
  608569 CLINVAR