RGD:11665807 Rat Genome Database

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Variant: RGD:11665807 -  Homo sapiens

RGD ID: 11665807
RS ID: rs28730709
ClinVar ID: CV353050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASQ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 116,243,719
GRCh38 1 115,701,098
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
LRG_404t1:c.*143G>A
LRG_404:g.72708G>A
NM_001232.3:c.*143G>A
NC_000001.11:g.115701098C>T
More... 		04/27/2017 3 prime utr variant benign|likely benign 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:CASQ2
Accession:NM_001232
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:26196381  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000295342 CLINVAR
  RCV001100359 CLINVAR
  RCV002469138 CLINVAR
dbSNP (RS) rs28730709 CLINVAR
MedGen C0027794 CLINVAR
  C0300948 CLINVAR
  C2677794 CLINVAR
NCBI Gene CASQ2 CLINVAR
  VANGL1 CLINVAR
OMIM 114251 CLINVAR
  182940 CLINVAR
  610132 CLINVAR
  611938 CLINVAR
SNOMED CT 253098009 CLINVAR