rs121434364

This is a stop gained variant in the GTF2H5 gene.

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ClinVar annotation

Pathogenic★★★☆
3 submitters3 publications

Trichothiodystrophy 3, photosensitive (TTD3)

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About GTF2H5

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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