LOVD NOG homepage

General information
Gene name noggin
Gene symbol NOG
Chromosome Location 17q22
Database location grenada.lumc.nl
Curator Marci Lesperance and Sarah Emery
Database reference for citations PMID7666191 PMID10080184 PMID11545688
PubMed references View all (unique) PubMed references in the NOG database
Date of creation April 29, 2010
Last update January 05, 2013
Version NOG130105
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_011958.1
Transcript refseq ID NM_005450.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 44
Total number of individuals with variant(s) 60
Total number of variants reported 60
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the NOG database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the NOG database, without patient data
Complete sequence variant listing Listing of all sequence variants in the NOG database
Variants with no known pathogenicity Listing of all NOG variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 7866
Entrez Gene 9241
OMIM - Gene 602991
OMIM - Disease #1 BRACHYDACTYLY, TYPE B2
OMIM - Disease #2 TARSAL-CARPAL COALITION SYNDROME
OMIM - Disease #3 SYMPHALANGISM, PROXIMAL
OMIM - Disease #4 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
OMIM - Disease #5 MULTIPLE SYNOSTOSES SYNDROME 1
UniProtKB (SwissProt/TrEMBL) Q13253
External link Orphanet