RGD:11593809 Rat Genome Database

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Variant: RGD:11593809 -  Homo sapiens

RGD ID: 11593809
RS ID: rs191609592
ClinVar ID: CV276316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127270059  VANGL1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 116,184,621
GRCh38 1 115,642,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016548.1:g.5048C>A
NC_000001.11:g.115642000C>A
NC_000001.10:g.116184621C>A
NM_001172411.2:c.-224C>A
More... 		01/12/2018 2kb upstream variant|5 prime utr variant benign|likely benign infancy 1-5 / 10 000 Neural tube defects
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VANGL1
Accession:NM_138959
Location:5UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172411
Location:5UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172412
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352634 CLINVAR
  RCV000405114 CLINVAR
dbSNP (RS) rs191609592 CLINVAR
MedGen C0027794 CLINVAR
  C1838568 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR