RGD:11606997 Rat Genome Database

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Variant: RGD:11606997 -  Homo sapiens

RGD ID: 11606997
RS ID: rs117531639
ClinVar ID: CV306114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 132,213,727
GRCh38 6 131,892,587
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.89572C>T
NC_000006.12:g.131892587C>T
NC_000006.11:g.132213727C>T
NM_006208.3:c.*2076C>T
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance infancy 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 RCV000338169 CLINVAR
  RCV000405728 CLINVAR
dbSNP (RS) rs117531639 CLINVAR
MedGen C2750078 CLINVAR
  C4551985 CLINVAR
NCBI Gene ENPP1 CLINVAR
OMIM 173335 CLINVAR
  208000 CLINVAR
  613312 CLINVAR