RGD:404993762 Rat Genome Database

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Variant: RGD:404993762 -  Homo sapiens

RGD ID: 404993762
ClinVar ID: CV2936288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,305,256
GRCh38 22 40,909,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.969+17C>T
NG_028221.1:g.57172C>T
NC_000022.11:g.40909252C>T
NC_000022.10:g.41305256C>T
 12/03/2022 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2936288Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVarPMID:28492532
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:INTRON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003598184 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR