RGD:13829341 Rat Genome Database

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Variant: RGD:13829341 -  Homo sapiens

RGD ID: 13829341
RS ID: rs200637678
ClinVar ID: CV580980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,206,562
GRCh38 X 41,347,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012830.2:g.18912T>C
NC_000023.11:g.41347309T>C
NC_000023.10:g.41206562T>C
NM_001356.3:c.1770-3T>C
More... 		02/01/2019 intron variant benign none provided
Disease Annotations     Click to see Annotation Detail View


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:XM_011543892
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193417
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 RCV000964156 CLINVAR
  RCV002313632 CLINVAR
dbSNP (RS) rs200637678 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR