RGD:151888940 Rat Genome Database

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Variant: RGD:151888940 -  Homo sapiens

RGD ID: 151888940
RS ID: rs371761857
ClinVar ID: CV1468524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 55,867,746
GRCh38 2 55,640,611
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.2148+16T>G
NG_033012.1:g.58300T>G
NC_000002.12:g.55640611A>C
NC_000002.11:g.55867746A>C
 08/17/2023 intron variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002001189 CLINVAR
dbSNP (RS) rs371761857 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR