View gene TWIST1

General information
Gene symbol TWIST1
Gene name twist basic helix-loop-helix transcription factor 1
Chromosome 7
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_008114.1
Transcript reference NM_000474.3
Exon/intron information NM_000474.3
Associated with diseases CRS-1, ID, Saethre-Cho., Robinow-Sorauf syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 8
Unique public DNA variants reported 7
Individuals with public variants 8
Hidden variants 0
Date created May 03, 2013
Date last updated September 17, 2014
Version TWIST1:140917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/TWIST1
HGNC 12428
Entrez Gene 7291
PubMed articles TWIST1
OMIM - Gene 601622
OMIM - Diseases CRS-1 (craniosynostosis, type 1 (CRS-1))
Saethre-Cho. (Saethre-Chotzen syndrome)
Robinow-Sorauf syndrome
HGMD TWIST1
GeneCards TWIST1
GeneTests TWIST1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022161 7 twist homolog 1 (Drosophila) NM_000474.3 NP_000465.1 8


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