RGD:11616667 Rat Genome Database

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Variant: RGD:11616667 -  Homo sapiens

RGD ID: 11616667
RS ID: rs116489517
ClinVar ID: CV335338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMHD1  TLDC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 35,520,327
GRCh38 20 36,891,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_281t1:c.*1008C>G
LRG_281:g.64920C>G
NG_017059.1:g.64920C>G
NC_000020.11:g.36891924G>C
More... 		01/12/2018 3 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SAMHD1
Accession:NM_015474
Location:3UTRS;EXON

Gene Symbol:SAMHD1
Accession:NM_001363729
Location:3UTRS;EXON

Gene Symbol:TLDC2
Accession:NM_080628
Location:3UTRS;INTRON

Gene Symbol:TLDC2
Accession:NM_001304783
Location:3UTRS;INTRON

Gene Symbol:SAMHD1
Accession:NM_001363733
Location:INTRON

Gene Symbol:TLDC2
Accession:XM_017027674
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296577 CLINVAR
  RCV000392184 CLINVAR
dbSNP (RS) rs116489517 CLINVAR
MedGen C2749659 CLINVAR
  C3280721 CLINVAR
NCBI Gene SAMHD1 CLINVAR
  TLDC2 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR
  614415 CLINVAR