rs6428677 Rat Genome Database

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Variant: rs6428677 -  Homo sapiens

RGD ID: 11665962
RS ID: rs6428677
ClinVar ID: CV276479
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 116,240,026
GRCh38 1 115,697,405
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.60453G>A
NC_000001.11:g.115697405G>A
NC_000001.10:g.116240026G>A
NM_001172411.2:c.*6026G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign infancy 1-5 / 10 000 Catecholamine-induced polymorphic ventricular tachycardia; Familial polymorphic ventricular tachycardia; Neural tube defects; none provided; Polymorphic catecholergic ventricular tachycardia
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_001172411
Location:3UTRS;EXON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000305185 CLINVAR
  RCV000398116 CLINVAR
  RCV000405967 CLINVAR
  RCV004710710 CLINVAR
dbSNP (RS) rs6428677 CLINVAR
MedGen C0027794 CLINVAR
  C1838568 CLINVAR
  C3661900 CLINVAR
  C5574922 CLINVAR
NCBI Gene CASQ2 CLINVAR
  VANGL1 CLINVAR
OMIM 114251 CLINVAR
  182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR