RGD:597712628 Rat Genome Database

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Variant: RGD:597712628 -  Homo sapiens

RGD ID: 597712628
ClinVar ID: CV3693984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 79,633,636
GRCh38 16 79,599,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001031804.3:c.164T>C
NM_005360.5:c.164T>C
NG_016440.1:g.5987T>C
NG_016440.2:g.5998T>C
More... 		06/25/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3693984Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004990417 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MAF CLINVAR
OMIM 177075 CLINVAR