RGD:11605214 Rat Genome Database

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Variant: RGD:11605214 -  Homo sapiens

RGD ID: 11605214
RS ID: rs1713420
ClinVar ID: CV320249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 20,942,744
GRCh38 14 20,474,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_91t1:c.285+10A>G
LRG_91:g.10203A>G
NG_009631.1:g.10203A>G
NC_000014.9:g.20474585A>G
More... 		12/08/2020 intron variant benign childhood AllHighlyPenetrant; none provided; PNP deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNP
Accession:NM_000270
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000317230 CLINVAR
  RCV000455677 CLINVAR
  RCV001653539 CLINVAR
dbSNP (RS) rs1713420 CLINVAR
MedGen C0268125 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNP CLINVAR
OMIM 164050 CLINVAR
  613179 CLINVAR
SNOMED CT 60743005 CLINVAR