RGD:38481529 Rat Genome Database

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Variant: RGD:38481529 -  Homo sapiens

RGD ID: 38481529
RS ID: rs1949382552
ClinVar ID: CV947971
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 22,086,856
GRCh38 12 21,933,922
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005691.4:c.144G>T
NM_020297.4:c.144G>T
NP_005682.2:p.Gly48=
NM_001377274.1:c.-311G>T
More... 		10/23/2019 5 prime utr variant uncertain significance CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:ABCC9
Accession:XM_005253289
Location:EXON

Gene Symbol:ABCC9
Accession:XM_011520545
Location:EXON

Gene Symbol:ABCC9
Accession:NM_005691
Location:EXON

Gene Symbol:ABCC9
Accession:NM_020297
Location:EXON

Gene Symbol:ABCC9
Accession:XM_005253290
Location:EXON

Gene Symbol:ABCC9
Accession:NM_001377273
Location:EXON

Gene Symbol:ABCC9
Accession:XM_005253288
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235148 CLINVAR
dbSNP (RS) rs1949382552 CLINVAR
MedGen C1837839 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 601439 CLINVAR
  608569 CLINVAR