RGD:12912898 Rat Genome Database

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Variant: RGD:12912898 -  Homo sapiens

RGD ID: 12912898
RS ID: rs1131691769
ClinVar ID: CV422477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX3X  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,200,736
GRCh38 X 41,341,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001356.5:c.152-1G>C
NG_012830.2:g.13086G>C
NC_000023.11:g.41341483G>C
NC_000023.10:g.41200736G>C
More... 		10/18/2021 splice acceptor variant pathogenic none provided

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

Gene Symbol:DDX3X
Accession:NM_001193416
Location:INTRON

Gene Symbol:DDX3X
Accession:NM_001356
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 Information

Database Acc Id Source(s)
ClinVar RCV000493150 CLINVAR
dbSNP (RS) rs1131691769 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DDX3X CLINVAR
OMIM 300160 CLINVAR