rs139881907 Rat Genome Database

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Variant: rs139881907 -  Homo sapiens

RGD ID: 152026632
RS ID: rs139881907
ClinVar ID: CV1626545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,320,505
GRCh38 22 40,924,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.1357+19A>G
NC_000022.10:g.41320505A>G
NG_028221.1:g.72421A>G
NC_000022.11:g.40924501A>G
 10/13/2023 intron variant benign|likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1626545Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVarPMID:25741868|PMID:28492532
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:INTRON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

.
PMID:25741868   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002185222 CLINVAR
dbSNP (RS) rs139881907 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR