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 CRS-1, ID, Robinow-Sorauf, SCS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 60
Unique public DNA variants reported 53
Individuals with public variants 15
Hidden variants 17
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated June 22, 2020
Version TWIST1:200622

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
HGNC 12428
Entrez Gene 7291
PubMed articles TWIST1
OMIM - Gene 601622
OMIM - Diseases CRS-1 (craniosynostosis, type 1 (CRS-1))
Robinow-Sorauf (syndrome, Robinow-Sorauf)
SCS (syndrome, Saethre-Chotzen, with/without eyelid anomalies (SCS))
GeneCards TWIST1
GeneTests TWIST1

Active transcripts




NCBI ID     

NCBI Protein ID     

00022161 7 twist homolog 1 (Drosophila) NM_000474.3 NP_000465.1 60

Copyright & disclaimer
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