rs2146270895 Rat Genome Database

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Variant: rs2146270895 -  Homo sapiens

RGD ID: 8555402
RS ID: rs2146270895
ClinVar ID: CV15091
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: XPNPEP3  
Reference Nucleotide: CAAA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 22 41,305,200 - 41,305,204
GRCh38 22 40,909,196 - 40,909,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NG_028221.1:g.57117_57120del
NM_022098.4:c.931_934del
NC_000022.11:g.40909197_40909200del
NC_000022.10:g.41305201_41305204del
More... 		09/06/2013 frameshift variant pathogenic all ages|variable 1-9 / 100 000
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV15091Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVarPMID:20179356
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALRRHKLM
SLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAILFVPRRDPSR
ELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEAKAKSKNKVRGVQQLI
QRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAYPPVVAGGNRSNTLHYVKNNQ
LIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAELYEAVLEIQRDCLALCFPGTSLENIYSMMLTLIGQKLKDLG
IMKNIKENNAFKAARKYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITIEPGIYIPEDDKDAPEKFRGLGVRIEDDVVV
TQDSPLILSADCPKEMNDIEQICSQAS*

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

.
PMID:20179356  



Database
Acc Id
Source(s)
ClinVar RCV000000069 CLINVAR
dbSNP (RS) rs2146270895 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR
OMIM Allele 613553.0002 CLINVAR