RGD:11584628 Rat Genome Database

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Variant: RGD:11584628 -  Homo sapiens

RGD ID: 11584628
RS ID: rs10497086
ClinVar ID: CV282908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNB4  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 152,692,476
GRCh38 2 151,835,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012641.1:g.268118T>A
NC_000002.12:g.151835962A>T
NC_000002.11:g.152692476A>T
NM_000726.3:c.*3157T>A
More... 		01/13/2018 3 prime utr variant benign adolescent Janz syndrome; Petit mal, impulsive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNB4
Accession:NM_001330114
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001005746
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_047445790
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001330115
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001005747
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_000726
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_047445792
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_011511797
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001320722
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001145798
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_011511796
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_047445791
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001330118
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001330117
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001330113
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:NM_001330116
Location:3UTRS;EXON

Gene Symbol:CACNB4
Accession:XM_047445796
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_047445797
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_047445798
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_017004888
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_047445793
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_047445795
Location:INTRON

Gene Symbol:CACNB4
Accession:XM_047445794
Location:INTRON

Gene Symbol:CACNB4
Accession:XR_007081584
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275217 CLINVAR
  RCV000369797 CLINVAR
dbSNP (RS) rs10497086 CLINVAR
MedGen C0270853 CLINVAR
  C1866039 CLINVAR
NCBI Gene CACNB4 CLINVAR
OMIM 254770 CLINVAR
  601949 CLINVAR
  613855 CLINVAR