RGD:14725078 Rat Genome Database

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Variant: RGD:14725078 -  Homo sapiens

RGD ID: 14725078
RS ID: rs72349432
ClinVar ID: CV660292
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: DOK7  
Reference Nucleotide: -
Variant Nucleotide: CTTCACCCCTTCATTCCTTT
Position
Assembly Chr Position
GRCh37 4 3,491,839
GRCh38 4 3,490,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256896.2:c.-159+327_-159+328insCTTCACCCCTTCATTCCTTT
NM_001363811.2:c.340+327_340+328insCTTCACCCCTTCATTCCTTT
NM_001164673.2:c.761+327_761+328insCTTCACCCCTTCATTCCTTT
NM_001301071.2:c.772+327_772+328insCTTCACCCCTTCATTCCTTT
More... 		06/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:XM_047450080
Location:5UTRS;INTRON

Gene Symbol:DOK7
Accession:NM_001256896
Location:5UTRS;INTRON

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

Gene Symbol:DOK7
Accession:NM_173660
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450078
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001301071
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001363811
Location:INTRON

Gene Symbol:DOK7
Accession:NM_001164673
Location:INTRON

Gene Symbol:DOK7
Accession:XM_011513435
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450079
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833272 CLINVAR
dbSNP (RS) rs72349432 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DOK7 CLINVAR
OMIM 610285 CLINVAR