RGD:11645191 Rat Genome Database

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Variant: RGD:11645191 -  Homo sapiens

RGD ID: 11645191
RS ID: rs886051063
ClinVar ID: CV340279
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJD2-DT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 35,080,816
GRCh38 15 34,788,615
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_388t1:c.*1797C>A
LRG_388:g.12112C>A
NG_007553.1:g.12112C>A
NC_000015.10:g.34788615G>T
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 RCV000264241 CLINVAR
  RCV000270286 CLINVAR
  RCV000310164 CLINVAR
  RCV000359063 CLINVAR
  RCV000364778 CLINVAR
dbSNP (RS) rs886051063 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