RGD:10049611 Rat Genome Database

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Variant: RGD:10049611 -  Homo sapiens

RGD ID: 10049611
RS ID: rs191800156
ClinVar ID: CV190673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 3,465,097
GRCh38 4 3,463,370
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.5065C>G
NC_000004.12:g.3463370C>G
NC_000004.11:g.3465097C>G
NM_173660.4:c.-6C>G
More... 		03/24/2017 5 prime utr variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:NM_001363811
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:NM_001164673
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:NM_001301071
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:XM_011513435
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:NM_173660
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:XM_047450079
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450080
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450081
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450078
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001256896
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173583 CLINVAR
  RCV003891705 CLINVAR
dbSNP (RS) rs191800156 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DOK7 CLINVAR
OMIM 610285 CLINVAR