RGD:152059903 Rat Genome Database

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Variant: RGD:152059903 -  Homo sapiens

RGD ID: 152059903
RS ID: rs376790766
ClinVar ID: CV1559114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 63,001,155
GRCh38 1 62,535,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272000.2:c.3518+9A>G
NM_001272001.2:c.3518+9A>G
NM_033407.4:c.3518+9A>G
NM_001271999.2:c.3611+9A>G
More... 		12/08/2021 intron variant likely benign Epileptic encephalopathy, early infantile, 23
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK7
Accession:NM_001272001
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001271999
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272002
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002640
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001367561
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001272000
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542328
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432967
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432964
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542330
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_047432966
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_033407
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_011542327
Location:INTRON

Gene Symbol:DOCK7
Accession:XM_017002639
Location:INTRON

Gene Symbol:DOCK7
Accession:NM_001330614
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002167875 CLINVAR
dbSNP (RS) rs376790766 CLINVAR
MedGen C4014492 CLINVAR
NCBI Gene DOCK7 CLINVAR
OMIM 615730 CLINVAR
  615859 CLINVAR