rs769010051 Rat Genome Database

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Variant: rs769010051 -  Homo sapiens

RGD ID: 151855956
RS ID: rs769010051
ClinVar ID: CV1376327
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,310,330
GRCh38 22 40,914,326
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.1055+2T>G
NG_028221.1:g.62246T>G
NC_000022.11:g.40914326T>G
NC_000022.10:g.41310330T>G
 08/16/2022 splice donor variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1376327Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVarPMID:16199547|PMID:20179356|PMID:28492532
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:INTRON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

.
PMID:16199547   PMID:20179356   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002033772 CLINVAR
dbSNP (RS) rs769010051 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR