RGD:156008654 Rat Genome Database

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Variant: RGD:156008654 -  Homo sapiens

RGD ID: 156008654
ClinVar ID: CV1989546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMHD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 35,545,340
GRCh38 20 36,916,937
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363729.2:c.953+12A>G
NM_001363733.2:c.953+12A>G
NM_015474.4:c.953+12A>G
LRG_281:g.39907A>G
More... 		12/23/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SAMHD1
Accession:NM_001363729
Location:INTRON

Gene Symbol:SAMHD1
Accession:NM_001363733
Location:INTRON

Gene Symbol:SAMHD1
Accession:NM_015474
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002636107 CLINVAR
MedGen C2749659 CLINVAR
NCBI Gene SAMHD1 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR