RGD:126762948 Rat Genome Database

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Variant: RGD:126762948 -  Homo sapiens

RGD ID: 126762948
RS ID: rs2041209208
ClinVar ID: CV993771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 18,629,883
GRCh38 10 18,340,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_381t1:c.214-60970C>T
LRG_381t2:c.28C>T
NM_001167945.2:c.130-60970C>T
NM_201571.4:c.130-60970C>T
More... 		07/27/2020 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNB2
Accession:NM_201590
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDRRLIAP*TKYIIPGGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVP
VPGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPS
SRKSTPPSSAIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGY
EVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLD
ADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLA
DYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSS
SAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDR
EQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ*

Gene Symbol:CACNB2
Accession:XM_011519659
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDRRLIAP*TKYIIPGGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVP
VPGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPS
SRKSTPPSSGAKSADEQDQWKTAGLFWRFTTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISI
TRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKI
SSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSR
TLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSE
TQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKD
GEVISKKRNEAGEWNRDVYIRQ*

Gene Symbol:CACNB2
Accession:NM_201571
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201572
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201596
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_000724
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201593
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001167945
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_005252591
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_006717502
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001330060
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001410882
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201597
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_047425725
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201570
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001310039 CLINVAR
dbSNP (RS) rs2041209208 CLINVAR
MedGen C2678477 CLINVAR
NCBI Gene CACNB2 CLINVAR
OMIM 600003 CLINVAR
  611876 CLINVAR