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Variant (rsID / SNP)

rs121434364

GTF2H5

rs121434364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GTF2H5. Location: chromosome 6, position 158,613,139. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GTF2H5Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:158613139
Cytoband
6q25.3
HGVS
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
Allele change
Nonsense_R56X

Associated conditions / phenotypes

Trichothiodystrophy 3, photosensitive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.