RGD:14724595 Rat Genome Database

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Variant: RGD:14724595 -  Homo sapiens

RGD ID: 14724595
RS ID: rs141410243
ClinVar ID: CV659218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 55,864,403
GRCh38 2 55,637,268
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.2196+284G>A
NG_033012.1:g.61643G>A
NC_000002.12:g.55637268C>T
NC_000002.11:g.55864403C>T
More... 		06/16/2018 intron variant likely benign none provided

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

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833055 CLINVAR
dbSNP (RS) rs141410243 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR