rs149370388 Rat Genome Database

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Variant: rs149370388 -  Homo sapiens

RGD ID: 15117230
RS ID: rs149370388
ClinVar ID: CV685473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,282,308
GRCh38 22 40,886,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.590-9C>T
NG_028221.1:g.34224C>T
NC_000022.11:g.40886304C>T
NC_000022.10:g.41282308C>T
More... 		01/25/2024 intron variant benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV685473Humannephronophthisis-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 RCV000861089 CLINVAR
  RCV004714131 CLINVAR
dbSNP (RS) rs149370388 CLINVAR
MedGen C3150419 CLINVAR
  C3661900 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR