RGD:11602098 Rat Genome Database

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Variant: RGD:11602098 -  Homo sapiens

RGD ID: 11602098
RS ID: rs1044548
ClinVar ID: CV306070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 132,211,763
GRCh38 6 131,890,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008206.1:g.87608G>A
NC_000006.12:g.131890623G>A
NC_000006.11:g.132211763G>A
NM_006208.3:c.*112G>A
More... 		08/30/2018 3 prime utr variant benign infancy Idiopathic infantile arterial calcification; none provided; Occlusive infantile arteriopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ENPP1
Accession:NM_006208
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288106 CLINVAR
  RCV000404885 CLINVAR
  RCV001636982 CLINVAR
dbSNP (RS) rs1044548 CLINVAR
MedGen C2750078 CLINVAR
  C3661900 CLINVAR
  C4551985 CLINVAR
NCBI Gene ENPP1 CLINVAR
OMIM 173335 CLINVAR
  208000 CLINVAR
  613312 CLINVAR