RGD:12839224 Rat Genome Database

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Variant: RGD:12839224 -  Homo sapiens

RGD ID: 12839224
RS ID: rs1057522292
ClinVar ID: CV366647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 55,910,979
GRCh38 2 55,683,844
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.15067C>A
NC_000002.12:g.55683844G>T
NC_000002.11:g.55910979G>T
NM_033109.5:c.404-10C>A
More... 		04/27/2016 intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000428415 CLINVAR
dbSNP (RS) rs1057522292 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR