RGD:38472027 Rat Genome Database

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Variant: RGD:38472027 -  Homo sapiens

RGD ID: 38472027
RS ID: rs1233525301
ClinVar ID: CV939300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO7  LOC127895927  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 32,871,021
GRCh38 22 32,475,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012179.4:c.32C>T
NG_016001.2:g.5315C>T
NC_000022.10:g.32871021C>T
NM_012179.3:c.32C>T
More... 		05/31/2019 missense variant uncertain significance 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: T to I (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLRVRLLKRIWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDEETLASYGIVSGDLICLILQD
DIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEG
TGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMH
PLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFT
RQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRH
IQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRP
RFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM*

Gene Symbol:FBXO7
Accession:NM_001033024
Location:INTRON

Gene Symbol:FBXO7
Accession:NM_001257990
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001203007 CLINVAR
dbSNP (RS) rs1233525301 CLINVAR
MedGen C1850100 CLINVAR
NCBI Gene FBXO7 CLINVAR
OMIM 260300 CLINVAR
  605648 CLINVAR