Gene entry

TWIST1

twist family bHLH transcription factor 1

Chromosome: 7
Cytoband: 7p21.1
Variants (rsID): 1

TWIST1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p21.1). Its official name is “twist family bHLH transcription factor 1”. The reference table lists 1 variant (rsID) for this gene.

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Clinically classified variants

1 reference-table entries with clinical significance.

rs878852992Conflicting interpretationssingle nucleotide variantSaethre-Chotzen syndrome|TWIST1-related craniosynostosis|Robinow-Sorauf syndrome|Sweeney-Cox syndrome|Saethre-Chotzen syndrome|TWIST1-related craniosynostosis

Public references

NCBI Gene
Ensembl
ClinVar

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.