RGD:28899197 Rat Genome Database

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Variant: RGD:28899197 -  Homo sapiens

RGD ID: 28899197
RS ID: rs1782462977
ClinVar ID: CV895346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 132,212,167
GRCh38 6 131,891,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.132212167T>C
NM_006208.2:c.*516T>C
NM_006208.3:c.*516T>C
NG_008206.1:g.88012T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Idiopathic infantile arterial calcification; 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 RCV001155732 CLINVAR
  RCV001155733 CLINVAR
dbSNP (RS) rs1782462977 CLINVAR
MedGen C2750078 CLINVAR
  C4551985 CLINVAR
NCBI Gene ENPP1 CLINVAR
OMIM 173335 CLINVAR
  208000 CLINVAR
  613312 CLINVAR