RGD:28880443 Rat Genome Database

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Variant: RGD:28880443 -  Homo sapiens

RGD ID: 28880443
RS ID: rs755509900
ClinVar ID: CV862065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 116,238,041
GRCh38 1 115,695,420
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172412.2:c.*4041T>C
NM_001172411.2:c.*4041T>C
NM_138959.3:c.*4041T>C
NG_016548.1:g.58468T>C
More... 		01/13/2018 3 prime utr variant uncertain significance 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 RCV001096552 CLINVAR
  RCV001096553 CLINVAR
dbSNP (RS) rs755509900 CLINVAR
MedGen C0027794 CLINVAR
  C1838568 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR