RGD:11666393 Rat Genome Database

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Variant: RGD:11666393 -  Homo sapiens

RGD ID: 11666393
RS ID: rs886046898
ClinVar ID: CV310022
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CACNB2  
Reference Nucleotide: -
Variant Nucleotide: AT
Position
Assembly Chr Position
GRCh37 10 18,829,260
GRCh38 10 18,540,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201597.3:c.*607_*608insAT
NM_000724.4:c.*607_*608insAT
NM_001167945.2:c.*607_*608insAT
NM_201590.3:c.*607_*608insAT
More... 		06/14/2016 3 prime utr variant uncertain significance Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNB2
Accession:NM_201596
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201571
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201570
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:XM_006717502
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_001330060
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201590
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_001410882
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201572
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201597
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:XM_011519659
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:XM_005252591
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_001167945
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_000724
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:NM_201593
Location:3UTRS;EXON

Gene Symbol:CACNB2
Accession:XM_047425725
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340972 CLINVAR
dbSNP (RS) rs886046898 CLINVAR
MedGen C1142166 CLINVAR
NCBI Gene CACNB2 CLINVAR
OMIM 600003 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR