RGD:11050961 Rat Genome Database

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Variant: RGD:11050961 -  Homo sapiens

RGD ID: 11050961
RS ID: rs869025217
ClinVar ID: CV217242
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DVL3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 183,888,106
GRCh38 3 184,170,318
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
NC_000003.12:g.184170318G>A
NC_000003.11:g.183888106G>A
NM_004423.4:c.1715-1G>A
NG_046860.1:g.20008G>A
More...
07/15/2022 splice acceptor variant pathogenic|likely pathogenic|not provided infancy|neonatal <1 / 1 000 000 Acral dysostosis with facial and genital abnormalities; Costovertebral segmentation defect with mesomelia (formerly); Covesdem syndrome (formerly); Fetal face syndrome; Robinow dwarfism; WNT5A-Related Robinow Syndrome, Autosomal Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DVL3
Accession:NM_004423
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23806086   PMID:24088041   PMID:25741868   PMID:26924530  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208714 CLINVAR
  RCV000210483 CLINVAR
  RCV003126595 CLINVAR
dbSNP (RS) rs869025217 CLINVAR
MedGen C4225164 CLINVAR
  C4225363 CLINVAR
  C4551475 CLINVAR
NCBI Gene DVL3 CLINVAR
OMIM 180700 CLINVAR
  601368 CLINVAR
  616331 CLINVAR
  616894 CLINVAR
OMIM Allele 601368.0004 CLINVAR