GTF2H5
general transcription factor IIH subunit 5
Summary
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]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs878853085 | 6:158,589,433 | T/G | — | uncertain significance |
| rs78146749 | 6:158,591,288 | C/G | — | benign |
| rs118000494 | 6:158,591,298 | C/A | — | likely benign |
| rs75327314 | 6:158,591,478 | A/G | — | benign |
| rs767541018 | 6:158,591,537 | T/C | — | likely pathogenic |
| rs752528478 | 6:158,591,541 | C/G | — | likely benign |
| rs1343920480 | 6:158,591,547 | C/T | — | likely benign |
| rs757056639 | 6:158,591,563 | A/G | — | uncertain significance |
| rs1785841426 | 6:158,591,564 | T/A | — | pathogenic |
| rs781202227 | 6:158,591,565 | A/T | — | likely benign |
| rs749777881 | 6:158,591,578 | G/T | — | likely benign |
| rs6931532 | 6:158,591,619 | T/G | — | benign |
| rs138501510 | 6:158,600,947 | C/A | downstream gene variant | — |
| rs4560672 | 6:158,607,473 | C/A | regulatory region variant | — |
| rs112043519 | 6:158,612,713 | A/G | — | benign |
| rs1234727775 | 6:158,612,995 | G/A | — | likely benign |
| rs765378190 | 6:158,613,007 | A/G | — | likely pathogenic |
| rs962907167 | 6:158,613,014 | C/A | — | uncertain significance |
| rs991468010 | 6:158,613,019 | A/G | — | uncertain significance |
| rs1777036380 | 6:158,613,022 | A/T | — | pathogenic |
| rs1166404811 | 6:158,613,028 | T/C | — | uncertain significance |
| rs2128432168 | 6:158,613,031 | C/G | — | uncertain significance |
| rs367800002 | 6:158,613,033 | G/T | — | likely benign |
| rs121434365 | 6:158,613,035 | T/C | missense variant | pathogenic |
| rs2483696586 | 6:158,613,043 | G/A | — | uncertain significance |
| rs372171527 | 6:158,613,053 | A/G | — | uncertain significance |
| rs781584010 | 6:158,613,061 | G/A | — | uncertain significance |
| rs2483696610 | 6:158,613,063 | G/A | — | likely benign |
| rs748906092 | 6:158,613,073 | A/G | — | uncertain significance |
| rs771490637 | 6:158,613,081 | A/G | — | likely benign |
| rs1777037398 | 6:158,613,083 | A/T | — | uncertain significance |
| rs773165282 | 6:158,613,089 | A/T | — | uncertain significance |
| rs777480675 | 6:158,613,091 | G/A | — | uncertain significance |
| rs956068957 | 6:158,613,095 | C/T | — | uncertain significance |
| rs1166843968 | 6:158,613,098 | A/G | — | uncertain significance |
| rs1347976720 | 6:158,613,099 | C/T | — | likely benign |
| rs114381286 | 6:158,613,100 | G/A | — | uncertain significance |
| rs759835009 | 6:158,613,102 | C/G | — | likely benign |
| rs146093050 | 6:158,613,109 | A/G | — | uncertain significance |
| rs1361729064 | 6:158,613,110 | T/C | — | uncertain significance |
| rs139277280 | 6:158,613,112 | G/A | — | uncertain significance |
| rs199635378 | 6:158,613,114 | A/G | — | likely benign |
| rs1333335800 | 6:158,613,117 | A/T | — | uncertain significance |
| rs2483696726 | 6:158,613,126 | T/C | — | likely benign |
| rs2483696731 | 6:158,613,128 | T/C | — | uncertain significance |
| rs1452678022 | 6:158,613,132 | C/T | — | likely benign |
| rs1777038679 | 6:158,613,136 | G/T | — | pathogenic |
| rs2483696751 | 6:158,613,137 | A/C | — | uncertain significance |
| rs1777038718 | 6:158,613,138 | G/T | — | uncertain significance |
| rs121434364 | 6:158,613,139 | C/T | stop gained | pathogenic |
| rs181096841 | 6:158,613,140 | G/A | — | uncertain significance |
| rs376497189 | 6:158,613,144 | G/A | — | likely benign |
| rs2483696766 | 6:158,613,151 | T/C | — | likely benign |
| rs369104295 | 6:158,613,167 | C/T | — | uncertain significance |
| rs2483696820 | 6:158,613,175 | C/G | — | uncertain significance |
| rs144130001 | 6:158,613,179 | C/T | — | uncertain significance |
| rs933125865 | 6:158,613,180 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.