RGD:152140036 Rat Genome Database

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Variant: RGD:152140036 -  Homo sapiens

RGD ID: 152140036
RS ID: rs2104156442
ClinVar ID: CV1628705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 55,907,831
GRCh38 2 55,680,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033109.5:c.565+16A>G
NG_033012.1:g.18215A>G
NC_000002.12:g.55680696T>C
NC_000002.11:g.55907831T>C
 10/22/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002100647 CLINVAR
dbSNP (RS) rs2104156442 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR