rs886057515 Rat Genome Database

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Variant: rs886057515 -  Homo sapiens

RGD ID: 11657859
RS ID: rs886057515
ClinVar ID: CV338155
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: XPNPEP3  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,323,661
GRCh38 22 40,927,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_028221.1:g.75577dup
NM_022098.4:c.*1222dup
NC_000022.11:g.40927657dup
NM_022098.3:c.*1222dupG
More... 		06/14/2016 3 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV338155Humannephronophthisis-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

.


Database
Acc Id
Source(s)
ClinVar RCV000344588 CLINVAR
dbSNP (RS) rs886057515 CLINVAR
MedGen C3280617 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613553 CLINVAR