RGD:11581989 Rat Genome Database

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Variant: RGD:11581989 -  Homo sapiens

RGD ID: 11581989
RS ID: rs200638628
ClinVar ID: CV284516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 202,074,293
GRCh38 2 201,209,570
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.1415+8C>G
LRG_33:g.31439C>G
NG_007265.1:g.31439C>G
NC_000002.12:g.201209570C>G
More... 		11/18/2020 intron 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_032976
Location:3UTRS;INTRON

Gene Symbol:CASP10
Accession:NM_032974
Location:INTRON

Gene Symbol:CASP10
Accession:NM_032977
Location:INTRON

Gene Symbol:CASP10
Accession:XM_005246907
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001206542
Location:INTRON

Gene Symbol:CASP10
Accession:NM_001306083
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:XR_007082551
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000393101 CLINVAR
  RCV003972407 CLINVAR
dbSNP (RS) rs200638628 CLINVAR
MedGen C1858968 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR