The TWIST1 gene homepage

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 exon/intron table
Associated with diseases CRS1, ID, RobinowSorauf, SCS, SWCOS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 74
Unique public DNA variants reported 65
Individuals with public variants 20
Hidden variants 16
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated August 22, 2022
Version TWIST1:220822

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_000474.3.
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 http://www.LOVD.nl/TWIST1
HGNC 12428
Entrez Gene 7291
PubMed articles TWIST1
OMIM - Gene 601622
OMIM - Diseases CRS1 (craniosynostosis, type 1 (CRS-1))
RobinowSorauf (Robinow-Sorauf syndrome)
SCS (Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS))
SWCOS (Sweeney-Cox syndrome)
HGMD TWIST1
GeneCards TWIST1
GeneTests TWIST1
Orphanet TWIST1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022161 7 twist homolog 1 (Drosophila) NM_000474.3 NP_000465.1 74


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