RGD:12836772 Rat Genome Database

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Variant: RGD:12836772 -  Homo sapiens

RGD ID: 12836772
RS ID: rs199717786
ClinVar ID: CV373136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 22,070,050
GRCh38 12 21,917,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_377:g.24579T>C
NG_012819.1:g.24579T>C
NC_000012.12:g.21917116A>G
NC_000012.11:g.22070050A>G
More... 		03/19/2022 intron variant benign|likely benign AllHighlyPenetrant; CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCC9
Accession:NM_001377274
Location:5UTRS;INTRON

Gene Symbol:ABCC9
Accession:XM_005253290
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_005691
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_011520545
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_020297
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253289
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253288
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_001377273
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001703715 CLINVAR
  RCV002062502 CLINVAR
  RCV002222506 CLINVAR
dbSNP (RS) rs199717786 CLINVAR
MedGen C1837839 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 601439 CLINVAR
  608569 CLINVAR