TTYH1
tweety family member 1
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766321377 | 19:54,926,791 | C/T | — | uncertain significance |
| rs375809807 | 19:54,930,363 | C/T | — | uncertain significance |
| rs759465020 | 19:54,930,369 | A/G | — | uncertain significance |
| rs150993074 | 19:54,930,443 | G/A | missense variant | — |
| rs542547262 | 19:54,931,948 | C/A | — | — |
| rs73606754 | 19:54,931,983 | C/T | — | — |
| rs1307671217 | 19:54,932,534 | A/G | — | uncertain significance |
| rs201784932 | 19:54,932,536 | C/A | — | uncertain significance |
| rs141084064 | 19:54,932,552 | T/C | — | uncertain significance |
| rs369627709 | 19:54,933,508 | G/A | — | uncertain significance |
| rs145214544 | 19:54,937,599 | G/A | downstream gene variant | — |
| rs146935608 | 19:54,937,850 | G/A | — | likely benign |
| rs895653345 | 19:54,937,896 | C/G | — | uncertain significance |
| rs113072192 | 19:54,938,501 | T/C | downstream gene variant | — |
| rs199950368 | 19:54,940,513 | G/A | — | uncertain significance |
| rs113234225 | 19:54,940,514 | T/C | — | uncertain significance |
| rs772573467 | 19:54,940,543 | G/T | — | uncertain significance |
| rs1392909968 | 19:54,940,555 | G/A | — | uncertain significance |
| rs368208894 | 19:54,941,060 | G/A | — | uncertain significance |
| rs1258259102 | 19:54,941,745 | C/T | — | likely benign |
| rs148150284 | 19:54,941,991 | A/C | splice region variant | — |
| rs768692520 | 19:54,942,040 | T/G | — | uncertain significance |
| rs200251030 | 19:54,946,840 | G/A | — | uncertain significance |
| rs368619786 | 19:54,947,280 | C/T | — | likely benign |
| rs568496543 | 19:54,947,342 | C/A | — | uncertain significance |
| rs139791484 | 19:54,947,529 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.