TXNDC15
thioredoxin domain containing 15
Summary
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751000456 | 5:134,210,123 | C/T | — | likely benign |
| rs145492234 | 5:134,210,144 | G/T | — | likely benign |
| rs538889958 | 5:134,210,159 | G/A | — | likely benign |
| rs142616682 | 5:134,210,202 | C/G | — | likely benign |
| rs886039792 | 5:134,210,221 | G/A | — | pathogenic |
| rs115460101 | 5:134,211,057 | G/T | — | benign |
| rs184061578 | 5:134,213,637 | G/T | — | — |
| rs149888850 | 5:134,214,004 | T/A | intron variant | — |
| rs565283000 | 5:134,220,892 | G/T | — | — |
| rs1255798727 | 5:134,223,385 | T/C | — | uncertain significance |
| rs764634537 | 5:134,223,484 | C/T | — | uncertain significance |
| rs143218475 | 5:134,223,521 | G/A | — | benign |
| rs770669901 | 5:134,223,545 | C/T | — | likely benign |
| rs1580863801 | 5:134,223,585 | G/C | — | uncertain significance |
| rs3733897 | 5:134,223,593 | G/A | — | benign |
| rs758309291 | 5:134,223,598 | G/C | — | uncertain significance |
| rs757173539 | 5:134,223,612 | G/A | — | uncertain significance |
| rs560905097 | 5:134,223,615 | G/A | — | uncertain significance |
| rs558907561 | 5:134,223,637 | C/T | — | uncertain significance |
| rs149625993 | 5:134,223,657 | G/A | — | conflicting classifications of pathogenicity |
| rs371232361 | 5:134,223,660 | C/T | — | pathogenic |
| rs199499193 | 5:134,223,664 | A/G | — | conflicting classifications of pathogenicity |
| rs144331590 | 5:134,223,686 | C/T | — | likely benign |
| rs139383071 | 5:134,223,705 | G/T | — | uncertain significance |
| rs1418467023 | 5:134,223,763 | C/T | — | uncertain significance |
| rs2479473772 | 5:134,223,770 | C/G | — | uncertain significance |
| rs79262456 | 5:134,223,804 | G/C | — | benign |
| rs2479473851 | 5:134,223,816 | G/A | — | uncertain significance |
| rs2479482218 | 5:134,229,212 | A/G | — | uncertain significance |
| rs760579409 | 5:134,229,225 | T/C | — | pathogenic |
| rs759323918 | 5:134,229,243 | C/T | — | uncertain significance |
| rs757903042 | 5:134,229,251 | C/T | — | uncertain significance |
| rs563251762 | 5:134,229,293 | C/T | — | uncertain significance |
| rs199565776 | 5:134,231,980 | G/T | — | likely benign |
| rs2479486863 | 5:134,232,028 | T/C | — | uncertain significance |
| rs2479486984 | 5:134,232,069 | G/T | — | uncertain significance |
| rs768237094 | 5:134,232,072 | C/T | — | pathogenic |
| rs773843909 | 5:134,235,217 | G/C | — | uncertain significance |
| rs772810258 | 5:134,235,224 | T/C | — | uncertain significance |
| rs1055256796 | 5:134,235,255 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.