RGD:28881581 Rat Genome Database

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Variant: RGD:28881581 -  Homo sapiens

RGD ID: 28881581
RS ID: rs749575443
ClinVar ID: CV903419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 452,003
GRCh38 9 452,003
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.5758-8C>T
NC_000009.11:g.452003C>T
NM_203447.3:c.5962-8C>T
LRG_196t1:c.5962-8C>T
More... 		12/04/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency; 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_011518046
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
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:XM_047423932
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001167671 CLINVAR
  RCV001702086 CLINVAR
  RCV001726442 CLINVAR
  RCV003595699 CLINVAR
dbSNP (RS) rs749575443 CLINVAR
MedGen C1968689 CLINVAR
  C3661900 CLINVAR
  C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR