RGD:13617084 Rat Genome Database

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Variant: RGD:13617084 -  Homo sapiens

RGD ID: 13617084
RS ID: rs776399238
ClinVar ID: CV524642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 386,329
GRCh38 9 386,329
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_196t1:c.2779-2A>C
LRG_196:g.176465A>C
NG_017007.1:g.176465A>C
NC_000009.12:g.386329A>C
More... 		01/03/2018 intron variant likely pathogenic 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_047423936
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518046
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_011518045
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423932
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:14722525   PMID:16199547   PMID:19776401   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003596099 CLINVAR
dbSNP (RS) rs776399238 CLINVAR
MedGen C1968689 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 611432 CLINVAR