RGD:8608279 Rat Genome Database

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Variant: RGD:8608279 -  Homo sapiens

RGD ID: 8608279
RS ID: rs201279882
ClinVar ID: CV54579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC9  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 22,070,051
GRCh38 12 21,917,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_377t1:c.407-14C>A
LRG_377t2:c.407-14C>A
LRG_377:g.24578C>A
NG_012819.1:g.24578C>A
More... 		03/25/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance neonatal <1 / 1 000 000 AllHighlyPenetrant; Arrhythmogenic right ventricular dysplasia; Cantu syndrome; Cardiomyopathy, ARVC; CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA; Hypertrichotic osteochondrodysplasia; 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_011520545
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253289
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_005691
Location:INTRON

Gene Symbol:ABCC9
Accession:XM_005253290
Location:INTRON

Gene Symbol:ABCC9
Accession:NM_020297
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:20890277   PMID:24033266   PMID:24503780   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000038615 CLINVAR
  RCV000312271 CLINVAR
  RCV000366987 CLINVAR
  RCV000852673 CLINVAR
  RCV001530112 CLINVAR
dbSNP (RS) rs201279882 CLINVAR
MedGen C0349788 CLINVAR
  C0795905 CLINVAR
  C1837839 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCC9 CLINVAR
OMIM 239850 CLINVAR
  601439 CLINVAR
  608569 CLINVAR
SNOMED CT 281170005 CLINVAR