RGD:155645409 Rat Genome Database

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Variant: RGD:155645409 -  Homo sapiens

RGD ID: 155645409
ClinVar ID: CV1710838
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: DNAJB7  XPNPEP3  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,257,835
GRCh38 22 40,861,831
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.3:c.64+4586_64+4587insA
NP_660157.1:p.Leu56fs
NC_000022.10:g.41257835dup
NM_001204827.2:c.*226dup
More... 		12/12/2016 3 prime utr variant benign Kidney disease; Kidney Diseases; Nephropathy; renal disease; renal disorder
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1710838Humankidney disease  IAGP 8554872ClinVar Annotator: match by term: Kidney diseaseClinVarPMID:25741868

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1710838HumanNephropathy  IAGP 8554872ClinVar Annotator: match by term: Kidney diseaseClinVarPMID:25741868
Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:3UTRS;EXON

Gene Symbol:DNAJB7
Accession:NM_145174
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDYYEVLGLQRYASPEDIKKAYHKVALKWHPDKNPENKEEAERKFKEVAEAYEVLSNDEKRDIYDKYGTEGLNGGGSHF
DDECEYGFTFHKPDDVFKEIFHERDPFSFHFFEDSLEDLLNRPGSSYGNRNRDAGYFFSTASEYPIFEKFSSYDTGYTSQ
GSLGHEGLTSFSSLAFDNSGMDNYISVTTSDKIVNGRNINTKKIIESDQEREAEDNGELTFFLVNSVANEEGFAKECSWR
TQSFNNYSPNSHSSKHVSQYTFVDNDEGGISWVTSNRDPPIFSAGVKEGGKRKKKKRKEVQKKSTKRNC*

Gene Symbol:XPNPEP3
Accession:NM_022098
Location:INTRON

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV002294619 CLINVAR
MedGen C0022658 CLINVAR
NCBI Gene DNAJB7 CLINVAR
  XPNPEP3 CLINVAR
OMIM 611336 CLINVAR
  613553 CLINVAR
SNOMED CT 90708001 CLINVAR