RGD:405251588 Rat Genome Database

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Variant: RGD:405251588 -  Homo sapiens

RGD ID: 405251588
ClinVar ID: CV3050062
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MFAP5  
Reference Nucleotide: CTC
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 12 8,802,141 - 8,802,144
GRCh38 12 8,649,545 - 8,649,548
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001297712.2:c.218-1343_218-1341del
NM_001297711.2:c.289_291del
NM_001297710.2:c.298_300del
NM_001297709.2:c.334_336del
More... 		04/25/2024 inframe_deletion uncertain significance MFAP5-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3050062HumanFamilial Thoracic Aortic Aneurysm 9  IAGP 8554872ClinVar Annotator: match by term: MFAP5-related conditionClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003721947 CLINVAR
  RCV004731567 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MFAP5 CLINVAR
OMIM 601103 CLINVAR