RGD:14726131 Rat Genome Database

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Variant: RGD:14726131 -  Homo sapiens

RGD ID: 14726131
RS ID: rs12340920
ClinVar ID: CV664581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 338,906
GRCh38 9 338,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193536.2:c.1219-100G>A
NM_203447.4:c.1423-100G>A
NM_001190458.2:c.1219-100G>A
NG_017007.1:g.129042G>A
More... 		06/16/2018 intron variant benign 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518046
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518045
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423936
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423932
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000833737 CLINVAR
  RCV001544389 CLINVAR
dbSNP (RS) rs12340920 CLINVAR
MedGen C3661900 CLINVAR
  C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR