RGD:597648528 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:597648528 -  Homo sapiens

RGD ID: 597648528
ClinVar ID: CV3657083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL25A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 109,790,290
GRCh38 4 108,869,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001256074.3:c.1025T>C
NM_032518.4:c.1037T>C
NM_198721.4:c.1037T>C
NG_047204.1:g.438619T>C
More...
08/01/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3657083Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004974248 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene COL25A1 CLINVAR
OMIM 610004 CLINVAR