RGD:407532418 Rat Genome Database

Send us a Message



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

Variant: RGD:407532418 -  Homo sapiens

RGD ID: 407532418
ClinVar ID: CV3493092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUT4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 52,903,943
GRCh38 1 52,438,271
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001009881.3:c.3887G>A
NM_015269.2:c.3887G>A
NC_000001.11:g.52438271C>T
NC_000001.10:g.52903943C>T
More...
05/13/2024 missense variant uncertain significance AllHighlyPenetrant

.


Database
Acc Id
Source(s)
ClinVar RCV004683062 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TUT4 CLINVAR
OMIM 613692 CLINVAR