RGD:152094034 Rat Genome Database

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Variant: RGD:152094034 -  Homo sapiens

RGD ID: 152094034
RS ID: rs2146151531
ClinVar ID: CV1648801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127893228  SAMHD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 35,575,214
GRCh38 20 36,946,811
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.209-7T>C
NM_001363733.2:c.209-7T>C
NM_015474.4:c.209-7T>C
LRG_281:g.10033T>C
More... 		08/13/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SAMHD1
Accession:NM_015474
Location:INTRON

Gene Symbol:SAMHD1
Accession:NM_001363729
Location:INTRON

Gene Symbol:SAMHD1
Accession:NM_001363733
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002078094 CLINVAR
dbSNP (RS) rs2146151531 CLINVAR
MedGen C2749659 CLINVAR
NCBI Gene SAMHD1 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR