rs1470774653 Rat Genome Database

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Variant: rs1470774653 -  Homo sapiens

RGD ID: 28876599
RS ID: rs1470774653
ClinVar ID: CV891362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,328,168
GRCh38 22 40,932,164
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.*5729A>G
NG_028221.1:g.80084A>G
NM_022098.3:c.*5729A>G
NC_000022.10:g.41328168A>G
More... 		01/12/2018 3 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV891362Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVar 
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 RCV001148090 CLINVAR
dbSNP (RS) rs1470774653 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR