RGD:28894743 Rat Genome Database

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Variant: RGD:28894743 -  Homo sapiens

RGD ID: 28894743
RS ID: rs1945638403
ClinVar ID: CV883217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 202,083,096
GRCh38 2 201,218,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_33t1:c.*632G>A
NM_001206524.2:c.*632G>A
NM_001230.5:c.*632G>A
NM_032977.4:c.*632G>A
More... 		01/12/2018 3 prime utr variant uncertain significance 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_001206524
Location:3UTRS;EXON

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

Gene Symbol:CASP10
Accession:NM_001230
Location:3UTRS;EXON

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

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

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

Gene Symbol:CASP10
Accession:NM_032974
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001306083
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001206542
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001140617 CLINVAR
dbSNP (RS) rs1945638403 CLINVAR
MedGen C1858968 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR