RGD:401920485 Rat Genome Database

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Variant: RGD:401920485 -  Homo sapiens

RGD ID: 401920485
ClinVar ID: CV2822884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSNK2B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,634,621
GRCh38 6 31,666,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.31666844G>T
NC_000006.11:g.31634621G>T
NP_001269314.1:p.Glu5Ter
NP_001311.3:p.Glu5Ter
More... 		02/01/2023 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CSNK2B
Accession:NM_001320
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSS*EVSWISWFCGLRGNEFFCEVDEDYIQDKFNLTGLNEQVPHYRQALDMILDLEPDEELEDNPNQSDLIEQAAEMLY
GLIHARYILTNRGIAQMLEKYQQGDFGYCPRVYCENQPMLPIGLSDIPGEAMVKLYCPKCMDVYTPKSSRHHHTDGAYFG
TGFPHMLFMVHPEYRPKRPANQFVPRLYGFKIHPMAYQLQLQAASNFKSPVKTIR*

Gene Symbol:CSNK2B
Accession:NM_001282385
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSS*EVSWISWFCGLRGNEFFCEVDEDYIQDKFNLTGLNEQVPHYRQALDMILDLEPDEELEDNPNQSDLIEQAAEMLY
GLIHARYILTNRGIAQMLEKYQQGDFGYCPRVYCENQPMLPIDIPGEAMVKLYCPKCMDVYTPKSSRHHHTDGAYFGTGF
PHMLFMVHPEYRPKRPANQFVPRLYGFKIHPMAYQLQLQAASNFKSPVKTIR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003431756 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CSNK2B CLINVAR
OMIM 115441 CLINVAR