RGD:156049654 Rat Genome Database

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Variant: RGD:156049654 -  Homo sapiens

RGD ID: 156049654
ClinVar ID: CV2378294
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSF2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,409,672
GRCh38 5 132,073,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.132073979G>C
NC_000005.9:g.131409672G>C
NM_000758.2:c.156G>C
NP_000749.2:p.Glu52Asp
More... 		08/29/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSF2
Accession:NM_000758
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLQSLLLLGTVACSISAPARSPSPSTQPWEHVNAIQEARRLLNLSRDTAADMNETVEVISEMFDLQEPTCLQTRLELYK
QGLRGSLTKLKGPLTMMASHYKQHCPPTPETSCATQIITFESFKENLKDFLLVIPFDCWEPVQE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002704868 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CSF2 CLINVAR
OMIM 138960 CLINVAR