RGD:13475540 Rat Genome Database

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Variant: RGD:13475540 -  Homo sapiens

RGD ID: 13475540
RS ID: rs776439796
ClinVar ID: CV446406
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 32,883,783
GRCh38 22 32,487,796
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016001.2:g.18077T>C
NC_000022.11:g.32487796T>C
NC_000022.10:g.32883783T>C
NP_036311.3:p.Leu280Pro
More... 		09/14/2017 missense variant uncertain significance none provided; Pallido-pyramidal disease; Pallidopyramidal syndrome; Parkinson disease 15; PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE; PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FBXO7
Accession:NM_012179
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDEETLASYGIVSGDLICLILQD
DIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEG
TGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMH
PLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLPPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFT
RQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRH
IQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRP
RFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM*

Gene Symbol:FBXO7
Accession:NM_001033024
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPPGGSGPLLDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAE
GTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYM
HPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLPPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAF
TRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKR
HIQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLR
PRFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM*

Gene Symbol:FBXO7
Accession:NM_001257990
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSD
ANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMHPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSV
KRLQLPPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFTRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLS
LSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPF
PSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRPRFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRP
TDGRLSFM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000519913 CLINVAR
  RCV001858020 CLINVAR
  RCV002525226 CLINVAR
dbSNP (RS) rs776439796 CLINVAR
MedGen C0950123 CLINVAR
  C1850100 CLINVAR
  C3661900 CLINVAR
NCBI Gene FBXO7 CLINVAR
OMIM 260300 CLINVAR
  605648 CLINVAR