RGD:11588761 Rat Genome Database

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Variant: RGD:11588761 -  Homo sapiens

RGD ID: 11588761
RS ID: rs41331447
ClinVar ID: CV286522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 202,083,984
GRCh38 2 201,219,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_33t1:c.*1520C>T
LRG_33:g.41130C>T
NG_007265.1:g.41130C>T
NC_000002.12:g.201219261C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages Autoimmune lymphoproliferative syndrome type 2; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP10
Accession:NM_001230
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_001206524
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:XM_005246907
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:XM_047446016
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_032977
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_032976
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_001206542
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001306083
Location:INTRON

Gene Symbol:CASP10
Accession:NM_032974
Location:INTRON

Gene Symbol:CASP10
Accession:XR_923044
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_923043
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_007082551
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305355 CLINVAR
dbSNP (RS) rs41331447 CLINVAR
MedGen C1858968 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR