RGD:40890059 Rat Genome Database

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Variant: RGD:40890059 -  Homo sapiens

RGD ID: 40890059
RS ID: rs2063911832
ClinVar ID: CV975624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,204,802
GRCh38 X 41,345,549
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193417.3:c.1267+1G>C
NM_001193416.3:c.1315+1G>C
NM_001356.5:c.1315+1G>C
NM_001363819.1:c.757+1G>C
More... 		10/23/2020 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX3X
Accession:NM_001363819
Location:INTRON

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:NR_126094
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001268641 CLINVAR
dbSNP (RS) rs2063911832 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR