RGD:11586353 Rat Genome Database

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Variant: RGD:11586353 -  Homo sapiens

RGD ID: 11586353
RS ID: rs144489409
ClinVar ID: CV276524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 116,238,731
GRCh38 1 115,696,110
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.59158C>T
NC_000001.11:g.115696110C>T
NC_000001.10:g.116238731C>T
NM_001172411.2:c.*4731C>T
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_138959
Location:3UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172412
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326153 CLINVAR
  RCV002469110 CLINVAR
dbSNP (RS) rs144489409 CLINVAR
MedGen C0027794 CLINVAR
  C0300948 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR