RGD:12833193 Rat Genome Database

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Variant: RGD:12833193 -  Homo sapiens

RGD ID: 12833193
RS ID: rs377526583
ClinVar ID: CV370944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 390,582
GRCh38 9 390,582
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190458.2:c.2670+16G>A
LRG_196t1:c.2970+16G>A
LRG_196:g.180718G>A
NG_017007.1:g.180718G>A
More... 		11/04/2016 intron variant likely benign AllHighlyPenetrant; Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK8
Accession:XM_011518045
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518046
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423936
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423932
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418053 CLINVAR
  RCV003595981 CLINVAR
dbSNP (RS) rs377526583 CLINVAR
MedGen C1968689 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 611432 CLINVAR