RGD:11613877 Rat Genome Database

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Variant: RGD:11613877 -  Homo sapiens

RGD ID: 11613877
RS ID: rs759530643
ClinVar ID: CV331583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJD2-DT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 35,081,295
GRCh38 15 34,789,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_388t1:c.*1318T>G
LRG_388:g.11633T>G
NG_007553.1:g.11633T>G
NC_000015.10:g.34789094A>C
More... 		06/14/2016 3 prime utr variant uncertain significance Defect in the atrial septum; HYPERTROPHIC MYOCARDIOPATHY; Interatrial communication
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJD2-DT
Accession:NR_120329
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000272570 CLINVAR
  RCV000294549 CLINVAR
  RCV000325314 CLINVAR
  RCV000351764 CLINVAR
  RCV000382283 CLINVAR
dbSNP (RS) rs759530643 CLINVAR
MedGen C0007194 CLINVAR
  C0018817 CLINVAR
  C0340429 CLINVAR
  C4021133 CLINVAR
  CN239310 CLINVAR
NCBI Gene 101928174 CLINVAR
  ACTC1 CLINVAR
OMIM 102540 CLINVAR
SNOMED CT 233878008 CLINVAR