RGD:12847135 Rat Genome Database

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Variant: RGD:12847135 -  Homo sapiens

RGD ID: 12847135
RS ID: rs142979302
ClinVar ID: CV367739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 55,864,752
GRCh38 2 55,637,617
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033012.1:g.61294T>A
NC_000002.12:g.55637617A>T
NC_000002.11:g.55864752A>T
NM_033109.5:c.2149-18T>A
More... 		06/19/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000442936 CLINVAR
  RCV002058942 CLINVAR
dbSNP (RS) rs142979302 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR