The WNT1 gene homepage

Osteogenesis Imperfecta Variant Database
General information
Gene symbol WNT1
Gene name Wnt family member 1
Chromosome 12
Chromosomal band q13.12
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_005430.3
Exon/intron information NM_005430.3 exon/intron table
Associated with diseases BMND, BMND16, OI, OI15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 151
Unique public DNA variants reported 71
Individuals with public variants 106
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created March 04, 2013
Date last updated November 27, 2023
Version WNT1:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005430.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 12774
Entrez Gene 7471
PubMed articles WNT1
OMIM - Gene 164820
OMIM - Diseases BMND16 (bone mineral density quantitative trait locus 16 (BMND-16))
OI15 (osteogenesis imperfecta, type XV (OI15))
GeneCards WNT1
GeneTests WNT1
Orphanet WNT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00022851 12 wingless-type MMTV integration site family, member 1 NM_005430.3 NP_005421.1 151

Copyright & disclaimer
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