RGD:597802439 Rat Genome Database

Send us a Message



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

Variant: RGD:597802439 -  Homo sapiens

RGD ID: 597802439
ClinVar ID: CV3628750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUT4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 52,991,619
GRCh38 1 52,525,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001009881.3:c.334A>G
NM_015269.2:c.334A>G
NC_000001.11:g.52525947T>C
NC_000001.10:g.52991619T>C
More...
07/30/2024 missense variant uncertain significance AllHighlyPenetrant

.


Database
Acc Id
Source(s)
ClinVar RCV004881234 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TUT4 CLINVAR
OMIM 613692 CLINVAR