RGD:11590972 Rat Genome Database

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Variant: RGD:11590972 -  Homo sapiens

RGD ID: 11590972
RS ID: rs762453158
ClinVar ID: CV276434
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 116,239,351
GRCh38 1 115,696,730
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.59778G>A
NC_000001.11:g.115696730G>A
NC_000001.10:g.116239351G>A
NM_001172411.2:c.*5351G>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy 1-5 / 10 000 Caudal dysgenesis syndrome; Caudal dysplasia; Caudal regression syndrome; 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_001172411
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000324322 CLINVAR
  RCV001098382 CLINVAR
  RCV002469113 CLINVAR
dbSNP (RS) rs762453158 CLINVAR
MedGen C0027794 CLINVAR
  C0300948 CLINVAR
  C1838568 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR