rs2146283516 Rat Genome Database

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Variant: rs2146283516 -  Homo sapiens

RGD ID: 151849469
RS ID: rs2146283516
ClinVar ID: CV1368388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,322,426
GRCh38 22 40,926,422
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_022098.4:c.1511G>A
NG_028221.1:g.74342G>A
NC_000022.11:g.40926422G>A
NC_000022.10:g.41322426G>A
More... 		06/13/2022 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1368388Humannephronophthisis-like nephropathy 1  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1ClinVarPMID:28492532
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 504
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALRRHKLM
SLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAILFVPRRDPSR
ELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEAKAKSKNKVRGVQQLI
QRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAYPPVVAGGNRSNTLHYVKNNQ
LIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAELYEAVLEIQRDCLALCFPGTSLENIYSMMLTLIGQKLKDLG
IMKNIKENNAFKAARKYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITIEPGIYIPEDDKDAPEKFRGLGVRIEDDVVV
TQDSPLILSADCPKEMNDIEQICNQAS*

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001978729 CLINVAR
dbSNP (RS) rs2146283516 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR