RGD:28888232 Rat Genome Database

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Variant: RGD:28888232 -  Homo sapiens

RGD ID: 28888232
RS ID: rs2063398513
ClinVar ID: CV887457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMHD1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 35,533,755
GRCh38 20 36,905,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015474.4:c.1410+12G>T
NM_015474.3:c.1410+12G>T
LRG_281t1:c.1410+12G>T
NC_000020.11:g.36905352C>A
More... 		01/13/2018 intron variant uncertain significance
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_001363733
Location:INTRON

Gene Symbol:SAMHD1
Accession:NM_001363729
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138327 CLINVAR
  RCV001138328 CLINVAR
dbSNP (RS) rs2063398513 CLINVAR
MedGen C2749659 CLINVAR
  C3280721 CLINVAR
NCBI Gene SAMHD1 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR
  614415 CLINVAR