RGD:152073736 Rat Genome Database

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Variant: RGD:152073736 -  Homo sapiens

RGD ID: 152073736
RS ID: rs145884935
ClinVar ID: CV1615501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMHD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 35,555,571
GRCh38 20 36,927,168
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.696+14C>T
NM_001363733.2:c.696+14C>T
NM_015474.4:c.696+14C>T
LRG_281:g.29676C>T
More... 		12/09/2021 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 RCV002091940 CLINVAR
dbSNP (RS) rs145884935 CLINVAR
MedGen C2749659 CLINVAR
NCBI Gene SAMHD1 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR