RGD:405050939 Rat Genome Database

Send us a Message



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

Variant: RGD:405050939 -  Homo sapiens

RGD ID: 405050939
ClinVar ID: CV3081627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF3D  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 36,912,655
GRCh38 22 36,516,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003753.4:c.1077-1G>C
NC_000022.11:g.36516608C>G
NC_000022.10:g.36912655C>G
11/09/2023 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EIF3D
Accession:XM_047441560
Location:INTRON

Gene Symbol:EIF3D
Accession:NM_003753
Location:INTRON

Gene Symbol:EIF3D
Accession:NR_156418
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003740594 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EIF3D CLINVAR
OMIM 603915 CLINVAR