RGD:11641617 Rat Genome Database

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Variant: RGD:11641617 -  Homo sapiens

RGD ID: 11641617
RS ID: rs886043055
ClinVar ID: CV269489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 3,487,392
GRCh38 4 3,485,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013072.2:g.27360G>A
NC_000004.12:g.3485665G>A
NC_000004.11:g.3487392G>A
NM_001363811.2:c.220+7G>A
More... 		12/16/2015 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:NM_001256896
Location:5UTRS;INTRON

Gene Symbol:DOK7
Accession:XM_047450081
Location:5UTRS;INTRON

Gene Symbol:DOK7
Accession:XM_047450080
Location:5UTRS;INTRON

Gene Symbol:DOK7
Accession:NM_001301071
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450079
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001363811
Location:INTRON

Gene Symbol:DOK7
Accession:NM_173660
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001164673
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450078
Location:INTRON

Gene Symbol:DOK7
Accession:XM_011513435
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000360044 CLINVAR
dbSNP (RS) rs886043055 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DOK7 CLINVAR
OMIM 610285 CLINVAR