RGD:127330899 Rat Genome Database

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Variant: RGD:127330899 -  Homo sapiens

RGD ID: 127330899
RS ID: rs1727716278
ClinVar ID: CV1135697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  LOC126806951  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 3,487,260
GRCh38 4 3,485,533
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.27228C>T
NC_000004.12:g.3485533C>T
NC_000004.11:g.3487260C>T
LRG_869t1:c.533-6C>T
More... 		04/29/2020 intron variant likely benign Congenital myasthenic syndrome 10; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Myasthenia, limb-girdle, familial; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:XM_047450081
Location:5UTRS;INTRON

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

Gene Symbol:DOK7
Accession:XM_047450080
Location:5UTRS;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_047450078
Location:INTRON

Gene Symbol:DOK7
Accession:NM_173660
Location:INTRON

Gene Symbol:DOK7
Accession:XM_047450079
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001488449 CLINVAR
dbSNP (RS) rs1727716278 CLINVAR
MedGen C1276035 CLINVAR
NCBI Gene DOK7 CLINVAR
  LOC126806951 CLINVAR
OMIM 208150 CLINVAR
  254300 CLINVAR
  610285 CLINVAR
SNOMED CT 401138005 CLINVAR