RGD:155962088 Rat Genome Database

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Variant: RGD:155962088 -  Homo sapiens

RGD ID: 155962088
ClinVar ID: CV1936585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 41,193,552
GRCh38 X 41,334,299
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363819.1:c.-1859+2T>A
NM_001193416.3:c.45+2T>A
NM_001193417.3:c.45+2T>A
NM_001356.5:c.45+2T>A
More... 		12/01/2022 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX3X
Accession:NM_001363819
Location:5UTRS;INTRON

Gene Symbol:DDX3X
Accession:NM_001356
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193417
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193416
Location:INTRON

Gene Symbol:DDX3X
Accession:XM_011543892
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002512404 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR