rs564396179 Rat Genome Database

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Variant: rs564396179 -  Homo sapiens

RGD ID: 11626767
RS ID: rs564396179
ClinVar ID: CV352580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,324,450
GRCh38 22 40,928,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_028221.1:g.76366A>G
NC_000022.11:g.40928446A>G
NC_000022.10:g.41324450A>G
NM_022098.4:c.*2011A>G
More... 		01/13/2018 3 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV352580Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-Like NephropathyClinVar 
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:3UTRS;EXON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000269286 CLINVAR
dbSNP (RS) rs564396179 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR