RGD:11592479 Rat Genome Database

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Variant: RGD:11592479 -  Homo sapiens

RGD ID: 11592479
RS ID: rs536289395
ClinVar ID: CV276261
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 116,240,084
GRCh38 1 115,697,463
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.60511C>G
NC_000001.11:g.115697463C>G
NC_000001.10:g.116240084C>G
NM_001172411.2:c.*6084C>G
More... 		01/13/2018 3 prime utr variant benign|uncertain significance 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_001172412
Location:3UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_138959
Location:3UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172411
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000339100 CLINVAR
  RCV000405345 CLINVAR
dbSNP (RS) rs536289395 CLINVAR
MedGen C0027794 CLINVAR
  C1838568 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR