RGD:38483211 Rat Genome Database

RGD ID:

38483211

RS ID:

rs2057482701

ClinVar ID:

CV951459

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	32,880,059
GRCh38	22	32,484,072

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001257990.2:c.251C>G NM_001033024.2:c.356C>G NM_012179.4:c.593C>G NG_016001.2:g.14353C>G More...	10/30/2019	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_001033024
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	119

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARPPGGSGPLLDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAE GTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDGLIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYM HPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAF TRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKR HIQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLR PRFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM*

Gene Symbol:	FBXO7
Accession:	NM_012179
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDEETLASYGIVSGDLICLILQD DIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEG TGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDGLIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMH PLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFT RQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRH IQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRP RFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM*

Gene Symbol:	FBXO7
Accession:	NM_001257990
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	84

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSD ANDGLIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMHPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSV KRLQLLPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFTRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLS LSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPF PSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRPRFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRP TDGRLSFM*

Variant Samples

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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