RGD:407515315 Rat Genome Database

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Variant: RGD:407515315 -  Homo sapiens

RGD ID: 407515315
ClinVar ID: CV3450672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYMK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 136,384,131
GRCh38 9 133,519,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001080483.3:c.264C>G
NC_000009.12:g.133519009G>C
NC_000009.11:g.136384131G>C
NM_001080483.2:c.264C>G
More... 		06/13/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3450672Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004649850 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MYMK CLINVAR
OMIM 615345 CLINVAR