RGD:11627048 Rat Genome Database

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Variant: RGD:11627048 -  Homo sapiens

RGD ID: 11627048
RS ID: rs145439001
ClinVar ID: CV350092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARFGEF2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 47,645,205
GRCh38 20 49,028,668
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.49028668C>T
NC_000020.10:g.47645205C>T
NP_006411.2:p.Thr1688Ile
NM_006420.3:c.5063C>T
More... 		04/15/2019 missense variant likely benign|uncertain significance AllHighlyPenetrant; Heterotopia, periventricular, autosomal recessive; Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided; Periventricular heterotopia with microcephaly; PERIVENTRICULAR NODULAR HETEROTOPIA 2
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ARFGEF2
Accession:XM_047439832
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ARFGEF2
Accession:NM_006420
Location:INTRON

Gene Symbol:ARFGEF2
Accession:NM_001410846
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000274139 CLINVAR
  RCV000503791 CLINVAR
  RCV000710615 CLINVAR
  RCV001251675 CLINVAR
  RCV002520018 CLINVAR
dbSNP (RS) rs145439001 CLINVAR
MedGen C0950123 CLINVAR
  C1842563 CLINVAR
  C3661900 CLINVAR
  C3714756 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARFGEF2 CLINVAR
OMIM 605371 CLINVAR
  608097 CLINVAR
SNOMED CT 228156007 CLINVAR