RGD:597685395 Rat Genome Database

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Variant: RGD:597685395 -  Homo sapiens

RGD ID: 597685395
ClinVar ID: CV3695162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALX1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 85,694,969
GRCh38 12 85,301,191
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006982.3:c.697G>T
NG_023202.1:g.25934G>T
NC_000012.12:g.85301191G>T
NC_000012.11:g.85694969G>T
More... 		09/20/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3695162Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004983991 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ALX1 CLINVAR
OMIM 601527 CLINVAR