RGD:9682415 Rat Genome Database

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Variant: RGD:9682415 -  Homo sapiens

RGD ID: 9682415
RS ID: rs587783589
ClinVar ID: CV169852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 110,574,270
GRCh38 X 111,331,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011750.1:g.86137G>A
NC_000023.11:g.111331042C>T
NC_000023.10:g.110574270C>T
NM_178151.2:c.809-1G>A
More... 		06/30/2016 splice acceptor variant pathogenic|likely pathogenic Heterotopia; Lissencephaly and agenesis of corpus callosum; Lissencephaly, X-linked; LISSENCEPHALY, X-LINKED, 1
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DCX
Accession:NM_001369370
Location:INTRON

Gene Symbol:DCX
Accession:NM_000555
Location:INTRON

Gene Symbol:DCX
Accession:NM_001195553
Location:INTRON

Gene Symbol:DCX
Accession:NM_178151
Location:INTRON

Gene Symbol:DCX
Accession:NM_001410715
Location:INTRON

Gene Symbol:DCX
Accession:NM_001369374
Location:INTRON

Gene Symbol:DCX
Accession:NM_001369371
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DCX
Accession:NM_001369372
Location:INTRON

Gene Symbol:DCX
Accession:NM_178152
Location:INTRON

Gene Symbol:DCX
Accession:NM_001369373
Location:INTRON

Gene Symbol:DCX
Accession:NM_178153
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000145892 CLINVAR
  RCV000660394 CLINVAR
dbSNP (RS) rs587783589 CLINVAR
MedGen C0008519 CLINVAR
  C4551968 CLINVAR
NCBI Gene DCX CLINVAR
OMIM 300067 CLINVAR
  300121 CLINVAR
SNOMED CT 719446000 CLINVAR