rs139991468 Rat Genome Database

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Variant: rs139991468 -  Homo sapiens

RGD ID: 11627018
RS ID: rs139991468
ClinVar ID: CV352565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127896356  XPNPEP3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,253,248
GRCh38 22 40,857,244
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_028221.1:g.5164A>G
NC_000022.11:g.40857244A>G
NC_000022.10:g.41253248A>G
NP_071381.1:p.Ser21=
More... 		07/19/2023 synonymous variant likely benign|uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV352565Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-Like NephropathyClinVarPMID:28492532
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:EXON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:EXON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000863350 CLINVAR
dbSNP (RS) rs139991468 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR