RGD:21074769 Rat Genome Database

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Variant: RGD:21074769 -  Homo sapiens

RGD ID: 21074769
RS ID: rs1602135698
ClinVar ID: CV798814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 41,205,480
GRCh38 X 41,346,227
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.1268-2A>G
NM_001193416.3:c.1316-2A>G
NM_001363819.1:c.758-2A>G
NG_012830.2:g.17830A>G
More... 		10/16/2019 splice acceptor variant pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
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_001193416
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001193417
Location:INTRON

Gene Symbol:DDX3X
Accession:XM_011543892
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001356
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 Information

Database Acc Id Source(s)
ClinVar RCV000995529 CLINVAR
dbSNP (RS) rs1602135698 CLINVAR
MedGen C5393299 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR
  300958 CLINVAR