RGD:11590942 Rat Genome Database

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Variant: RGD:11590942 -  Homo sapiens

RGD ID: 11590942
RS ID: rs6753900
ClinVar ID: CV286500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 202,073,790
GRCh38 2 201,209,067
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.923-3C>T
LRG_33:g.30936C>T
NG_007265.1:g.30936C>T
NC_000002.12:g.201209067C>T
More... 		12/02/2020 intron variant benign all ages Autoimmune lymphoproliferative syndrome type 2; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP10
Accession:NM_032976
Location:3UTRS;INTRON

Gene Symbol:CASP10
Accession:XM_005246907
Location:INTRON

Gene Symbol:CASP10
Accession:XM_047446016
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001206524
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001230
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001206542
Location:INTRON

Gene Symbol:CASP10
Accession:NM_032974
Location:INTRON

Gene Symbol:CASP10
Accession:NM_032977
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001306083
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000323898 CLINVAR
  RCV001541729 CLINVAR
dbSNP (RS) rs6753900 CLINVAR
MedGen C1858968 CLINVAR
  C3661900 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR