RGD:126726547 Rat Genome Database

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Variant: RGD:126726547 -  Homo sapiens

RGD ID: 126726547
RS ID: rs778809812
ClinVar ID: CV1017183
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  DOCK8-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 215,052
GRCh38 9 215,052
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_196:g.5188C>T
LRG_196t1:c.53+23C>T
NM_203447.4:c.53+23C>T
NC_000009.11:g.215052C>T
More... 		06/20/2019 intron variant uncertain significance HIES autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; Hyper-IgE recurrent infection syndrome, autosomal recessive; HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK8
Accession:XM_017015173
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_047423932
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_011518045
Location:5UTRS;INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:5UTRS;INTRON

Gene Symbol:DOCK8-AS1
Accession:NR_160804
Location:EXON;NON-CODING

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518046
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423936
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332035 CLINVAR
dbSNP (RS) rs778809812 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
  DOCK8-AS1 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR