RGD:152091156 Rat Genome Database

Send us a Message



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

Variant: RGD:152091156 -  Homo sapiens

RGD ID: 152091156
RS ID: rs748381452
ClinVar ID: CV1595811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,203,670
GRCh38 X 41,344,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193416.3:c.1025+18T>C
NM_001356.5:c.1025+18T>C
NM_001363819.1:c.467+18T>C
NM_001193417.3:c.977+18T>C
More...
06/09/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX3X
Accession:NM_001356
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193416
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193417
Location:INTRON

Gene Symbol:DDX3X
Accession:XM_011543892
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001363819
Location:INTRON

Gene Symbol:DDX3X
Accession:NR_126093
Location:INTRON;NON-CODING

Gene Symbol:DDX3X
Accession:NR_126094
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002077730 CLINVAR
dbSNP (RS) rs748381452 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR