RGD:152075666 Rat Genome Database

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Variant: RGD:152075666 -  Homo sapiens

RGD ID: 152075666
RS ID: rs201875880
ClinVar ID: CV1528236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO7  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 32,891,535
GRCh38 22 32,495,548
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.1182+18T>G
NM_001257990.2:c.840+18T>G
NM_001033024.2:c.945+18T>G
NG_016001.2:g.25829T>G
More... 		10/27/2021 intron variant likely benign 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:INTRON

Gene Symbol:FBXO7
Accession:NM_001257990
Location:INTRON

Gene Symbol:FBXO7
Accession:NM_012179
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002112065 CLINVAR
dbSNP (RS) rs201875880 CLINVAR
MedGen C1850100 CLINVAR
NCBI Gene FBXO7 CLINVAR
OMIM 260300 CLINVAR
  605648 CLINVAR