RGD:11598595 Rat Genome Database

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Variant: RGD:11598595 -  Homo sapiens

RGD ID: 11598595
RS ID: rs187758494
ClinVar ID: CV286550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,151,908
GRCh38 2 201,287,185
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_34t2:c.*591T>C
LRG_34:g.58728T>C
NG_007497.1:g.58728T>C
NC_000002.12:g.201287185T>C
More... 		01/12/2018 3 prime utr variant uncertain significance childhood <1 / 1 000 000 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; Caspase-8 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP8
Accession:NM_001400661
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400656
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400666
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001372051
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400663
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400662
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400658
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400675
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001080125
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_033356
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001080124
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400648
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400665
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400664
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400660
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400751
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400673
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400672
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400642
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400655
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400678
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_033355
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400651
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400667
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400659
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400657
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400654
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:XM_011511969
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400677
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400669
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:XM_047445959
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:XM_047445960
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400670
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400680
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400645
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400668
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001228
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:XM_047445961
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400750
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400674
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400676
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400653
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NM_001400671
Location:3UTRS;EXON

Gene Symbol:CASP8
Accession:NR_174583
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174592
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174586
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174596
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174589
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_111983
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174601
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174585
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174564
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174594
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174591
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174565
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174600
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174593
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174590
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174598
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174588
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174581
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174595
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174602
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174584
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174599
Location:EXON;NON-CODING

Gene Symbol:CASP8
Accession:XM_005246893
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400679
Location:INTRON

Gene Symbol:CASP8
Accession:XR_007082538
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:XR_007082539
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174582
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000407889 CLINVAR
dbSNP (RS) rs187758494 CLINVAR
MedGen C1846545 CLINVAR
NCBI Gene CASP8 CLINVAR
OMIM 601763 CLINVAR
  607271 CLINVAR