RGD:405116901 Rat Genome Database

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Variant: RGD:405116901 -  Homo sapiens

RGD ID: 405116901
ClinVar ID: CV3024907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KDM5C  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 53,226,000
GRCh38 X 53,196,818
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146702.2:c.2648T>C
NM_001282622.3:c.2846T>C
NM_001353979.2:c.2846T>C
NM_001353982.2:c.2846T>C
More... 		04/23/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003752430 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene KDM5C CLINVAR
OMIM 314690 CLINVAR