RGD:14703942 Rat Genome Database

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Variant: RGD:14703942 -  Homo sapiens

RGD ID: 14703942
RS ID: rs763358033
ClinVar ID: CV650684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 63,102,275
GRCh38 1 62,636,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272002.2:c.819-1G>A
NM_001367561.1:c.819-1G>A
NG_033073.2:g.56765G>A
NC_000001.11:g.62636604C>T
More... 		08/28/2018 splice acceptor variant likely pathogenic Epileptic encephalopathy, early infantile, 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK7
Accession:NM_033407
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542328
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272002
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001330614
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272001
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001271999
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542327
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542330
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002640
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001367561
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432967
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432966
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002639
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432964
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272000
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24814191   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000795738 CLINVAR
dbSNP (RS) rs763358033 CLINVAR
MedGen C4014492 CLINVAR
NCBI Gene DOCK7 CLINVAR
OMIM 615730 CLINVAR
  615859 CLINVAR