RGD:26914022 Rat Genome Database

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Variant: RGD:26914022 -  Homo sapiens

RGD ID: 26914022
RS ID: rs778119158
ClinVar ID: CV851436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 55,900,217
GRCh38 2 55,673,082
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.680-3T>A
NG_033012.1:g.25829T>A
NC_000002.12:g.55673082A>T
NC_000002.11:g.55900217A>T
More... 		12/23/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001036906 CLINVAR
dbSNP (RS) rs778119158 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR