rs773417792 Rat Genome Database

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Variant: rs773417792 -  Homo sapiens

RGD ID: 26885947
RS ID: rs773417792
ClinVar ID: CV828627
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CRELD1  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 9,984,559
GRCh38 3 9,942,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001031717.4:c.796dup
NM_001374316.1:c.796dup
NM_015513.6:c.796dup
NG_017069.1:g.14035dup
More... 		10/01/2024 frameshift variant conflicting interpretations of pathogenicity|uncertain significance Atrioventricular septal defect 2; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV828627HumanAtrioventricular Septal Defect 2  IAGP 8554872ClinVar Annotator: match by term: Atrioventricular septal defect more ...ClinVarPMID:25741868 more ...


.
PMID:25741868   PMID:28492532   PMID:37947183  



Database
Acc Id
Source(s)
ClinVar RCV001043864 CLINVAR
  RCV004726822 CLINVAR
dbSNP (RS) rs773417792 CLINVAR
MedGen C1853508 CLINVAR
  C3661900 CLINVAR
NCBI Gene CRELD1 CLINVAR
OMIM 606217 CLINVAR
  607170 CLINVAR