RGD:14731809 Rat Genome Database

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Variant: RGD:14731809 -  Homo sapiens

RGD ID: 14731809
RS ID: rs748429
ClinVar ID: CV664400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 382,390
GRCh38 9 382,390
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.2402-123T>C
NG_017007.1:g.172526T>C
NC_000009.12:g.382390T>C
NC_000009.11:g.382390T>C
More... 		06/14/2018 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
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_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_203447
Location:INTRON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423932
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423936
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000836303 CLINVAR
  RCV003396482 CLINVAR
dbSNP (RS) rs748429 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 611432 CLINVAR