RGD:155796560 Rat Genome Database

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Variant: RGD:155796560 -  Homo sapiens

RGD ID: 155796560
ClinVar ID: CV1862920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSNK2B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 31,637,624
GRCh38 6 31,669,847
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282385.2:c.560T>C
NM_001320.7:c.569T>C
NC_000006.12:g.31669847T>C
NC_000006.11:g.31637624T>C
More... 		07/17/2023 missense variant likely pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSNK2B
Accession:NM_001320
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSEEVSWISWFCGLRGNEFFCEVDEDYIQDKFNLTGLNEQVPHYRQALDMILDLEPDEELEDNPNQSDLIEQAAEMLY
GLIHARYILTNRGIAQMLEKYQQGDFGYCPRVYCENQPMLPIGLSDIPGEAMVKLYCPKCMDVYTPKSSRHHHTDGAYFG
TGFPHMLFMVHPEYRPKRPANQFVPRLYGSKIHPMAYQLQLQAASNFKSPVKTIR*

Gene Symbol:CSNK2B
Accession:NM_001282385
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSEEVSWISWFCGLRGNEFFCEVDEDYIQDKFNLTGLNEQVPHYRQALDMILDLEPDEELEDNPNQSDLIEQAAEMLY
GLIHARYILTNRGIAQMLEKYQQGDFGYCPRVYCENQPMLPIDIPGEAMVKLYCPKCMDVYTPKSSRHHHTDGAYFGTGF
PHMLFMVHPEYRPKRPANQFVPRLYGSKIHPMAYQLQLQAASNFKSPVKTIR*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:35571680  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002470194 CLINVAR
MedGen C5231482 CLINVAR
NCBI Gene CSNK2B CLINVAR
OMIM 115441 CLINVAR
  618732 CLINVAR