RGD:597658409 Rat Genome Database

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Variant: RGD:597658409 -  Homo sapiens

RGD ID: 597658409
ClinVar ID: CV3662547
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLAT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 111,896,461
GRCh38 11 112,025,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001372042.1:c.-202C>G
NM_001372037.1:c.111+113C>G
NM_001372036.1:c.224C>G
NM_001372031.1:c.265C>G
More...
07/16/2024 5 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3662547Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004976911 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DLAT CLINVAR
OMIM 608770 CLINVAR