RGD:41408264 Rat Genome Database

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Variant: RGD:41408264 -  Homo sapiens

RGD ID: 41408264
ClinVar ID: CV980790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SET  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 131,456,088
GRCh38 9 128,693,809
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003011.4:c.663+1G>C
NM_001122821.2:c.702+1G>C
NC_000009.11:g.131456088G>C
NM_003011.3:c.663+1G>C
More... 		splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SET
Accession:NM_001122821
Location:INTRON

Gene Symbol:SET
Accession:NM_003011
Location:INTRON

Gene Symbol:SET
Accession:NM_001248000
Location:INTRON

Gene Symbol:SET
Accession:NM_001248001
Location:INTRON

Gene Symbol:SET
Accession:NM_001374326
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001281648 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SET CLINVAR
OMIM 600960 CLINVAR