RGD:126741256 Rat Genome Database

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Variant: RGD:126741256 -  Homo sapiens

RGD ID: 126741256
RS ID: rs763454948
ClinVar ID: CV999777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 41,204,805
GRCh38 X 41,345,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_043908.1:g.425T>C
NM_001193417.3:c.1267+4A>G
NM_001193416.3:c.1315+4A>G
NM_001356.5:c.1315+4A>G
More... 		04/29/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX3X
Accession:XM_011543892
Location:INTRON

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:NR_126094
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001305383 CLINVAR
dbSNP (RS) rs763454948 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR