rs766176657 Rat Genome Database

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Variant: rs766176657 -  Homo sapiens

RGD ID: 152052735
RS ID: rs766176657
ClinVar ID: CV1587481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFAP5  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 8,813,441
GRCh38 12 8,660,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001297709.2:c.94+18T>G
NM_001297711.2:c.94+18T>G
NM_001297712.2:c.94+18T>G
NM_001297710.2:c.58+1202T>G
More... 		11/16/2023 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1587481HumanFamilial Thoracic Aortic Aneurysm 9  IAGP 8554872ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9ClinVarPMID:28492532
Gene Symbol:MFAP5
Accession:NM_001297709
Location:INTRON

Gene Symbol:MFAP5
Accession:NM_001297710
Location:INTRON

Gene Symbol:MFAP5
Accession:NM_001297712
Location:INTRON

Gene Symbol:MFAP5
Accession:NM_003480
Location:INTRON

Gene Symbol:MFAP5
Accession:NM_001297711
Location:INTRON

Gene Symbol:MFAP5
Accession:NR_123734
Location:INTRON;NON-CODING

Gene Symbol:MFAP5
Accession:NR_123733
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002145882 CLINVAR
  RCV003750879 CLINVAR
dbSNP (RS) rs766176657 CLINVAR
MedGen C3661900 CLINVAR
  C4015368 CLINVAR
NCBI Gene MFAP5 CLINVAR
OMIM 601103 CLINVAR
  616166 CLINVAR