RGD:156442325 Rat Genome Database

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Variant: RGD:156442325 -  Homo sapiens

RGD ID: 156442325
ClinVar ID: CV1938551
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CYP2U1  LOC107986298  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 4 108,871,462
GRCh38 4 107,950,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_183075.3:c.1517del
NG_007961.1:g.23745del
NC_000004.12:g.107950305del
NC_000004.11:g.108871461del
More... 		07/25/2022 frameshift variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1938551Humanparaplegia  IAGP 8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28120039|PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1938551HumanSpastic paraplegia  IAGP 8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:28120039|PMID:28492532

.
PMID:28120039   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003112666 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene CYP2U1 CLINVAR
OMIM 610670 CLINVAR