RGD:11648172 Rat Genome Database

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Variant: RGD:11648172 -  Homo sapiens

RGD ID: 11648172
RS ID: rs886057419
ClinVar ID: CV337905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO7  LOC127895927  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 32,870,897
GRCh38 22 32,474,910
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.-93G>A
NG_016001.2:g.5191G>A
NM_012179.3:c.-93G>A
NG_016001.1:g.5191G>A
More... 		06/14/2016 2kb upstream variant|5 prime utr 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:5UTRS;EXON

Gene Symbol:FBXO7
Accession:NM_001257990
Location:INTRON

Gene Symbol:FBXO7
Accession:NM_001033024
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280639 CLINVAR
dbSNP (RS) rs886057419 CLINVAR
MedGen C1850100 CLINVAR
NCBI Gene FBXO7 CLINVAR
OMIM 260300 CLINVAR
  605648 CLINVAR