RSPH6A
radial spoke head 6 homolog A
Summary
The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776710136 | 19:46,299,137 | G/T | — | uncertain significance |
| rs61730714 | 19:46,299,178 | C/T | — | likely benign |
| rs201155665 | 19:46,299,196 | T/A | — | uncertain significance |
| rs753513198 | 19:46,299,288 | T/G | — | uncertain significance |
| rs145529811 | 19:46,299,318 | C/T | — | uncertain significance |
| rs753566555 | 19:46,299,352 | G/C | — | uncertain significance |
| rs7252126 | 19:46,302,374 | T/G | — | — |
| rs45486500 | 19:46,303,725 | G/A | — | uncertain significance |
| rs200210042 | 19:46,303,726 | C/A | — | uncertain significance |
| rs762679225 | 19:46,303,791 | C/T | — | uncertain significance |
| rs45565440 | 19:46,305,398 | G/A | — | uncertain significance |
| rs201992328 | 19:46,305,407 | G/T | — | uncertain significance |
| rs766629769 | 19:46,305,482 | T/C | — | uncertain significance |
| rs138318118 | 19:46,305,507 | C/T | — | uncertain significance |
| rs8111071 | 19:46,307,406 | A/G | intron variant | — |
| rs139826079 | 19:46,307,565 | T/G | — | uncertain significance |
| rs563015525 | 19:46,307,568 | A/G | — | uncertain significance |
| rs766303296 | 19:46,307,582 | C/G | — | uncertain significance |
| rs201903476 | 19:46,307,584 | C/T | — | uncertain significance |
| rs61749001 | 19:46,307,619 | G/C | — | uncertain significance |
| rs759434603 | 19:46,307,625 | C/T | — | uncertain significance |
| rs1265278746 | 19:46,307,634 | T/A | — | uncertain significance |
| rs1970511968 | 19:46,307,649 | T/A | — | uncertain significance |
| rs1970513650 | 19:46,307,731 | C/A | — | uncertain significance |
| rs780592868 | 19:46,307,739 | C/G | — | uncertain significance |
| rs2513720841 | 19:46,307,764 | C/G | — | uncertain significance |
| rs1484232311 | 19:46,307,767 | G/C | — | uncertain significance |
| rs1970514960 | 19:46,307,808 | G/A | — | uncertain significance |
| rs764831392 | 19:46,307,815 | C/T | — | uncertain significance |
| rs950299024 | 19:46,307,906 | G/C | — | uncertain significance |
| rs45456391 | 19:46,307,912 | C/G | — | uncertain significance |
| rs138579958 | 19:46,307,926 | C/T | — | uncertain significance |
| rs148314106 | 19:46,307,983 | C/G | — | uncertain significance |
| rs141469854 | 19:46,307,986 | C/T | — | uncertain significance |
| rs749147799 | 19:46,308,006 | G/A | — | uncertain significance |
| rs138038020 | 19:46,308,030 | G/A | — | likely benign |
| rs191402721 | 19:46,308,106 | G/A | — | uncertain significance |
| rs1970522218 | 19:46,308,130 | A/G | — | uncertain significance |
| rs777210732 | 19:46,308,141 | G/A | — | uncertain significance |
| rs2513721565 | 19:46,308,192 | A/C | — | uncertain significance |
| rs779817281 | 19:46,308,204 | G/A | — | uncertain significance |
| rs200549785 | 19:46,308,206 | G/C | — | uncertain significance |
| rs141736119 | 19:46,308,220 | C/T | — | uncertain significance |
| rs183291224 | 19:46,308,248 | C/T | — | uncertain significance |
| rs1972423 | 19:46,308,915 | A/C | intron variant | — |
| rs56309034 | 19:46,311,420 | C/G | — | — |
| rs12460541 | 19:46,312,077 | G/T | — | — |
| rs1970611597 | 19:46,313,875 | T/C | — | uncertain significance |
| rs1970611748 | 19:46,313,881 | G/T | — | uncertain significance |
| rs553772648 | 19:46,313,896 | C/T | — | uncertain significance |
| rs147742600 | 19:46,313,908 | G/A | — | uncertain significance |
| rs2513726417 | 19:46,313,936 | C/A | — | uncertain significance |
| rs745826525 | 19:46,314,069 | T/C | — | uncertain significance |
| rs74450753 | 19:46,317,709 | G/C | regulatory region variant | — |
| rs371400604 | 19:46,317,832 | G/C | — | uncertain significance |
| rs544366998 | 19:46,317,864 | C/T | — | uncertain significance |
| rs146012403 | 19:46,317,911 | A/T | — | uncertain significance |
| rs202212190 | 19:46,317,960 | C/T | — | uncertain significance |
| rs1436989552 | 19:46,318,028 | G/A | — | uncertain significance |
| rs201345094 | 19:46,318,092 | T/C | — | uncertain significance |
| rs1348289265 | 19:46,318,104 | C/T | — | uncertain significance |
| rs2513731209 | 19:46,318,190 | A/C | — | uncertain significance |
| rs753228589 | 19:46,318,197 | C/T | — | uncertain significance |
| rs769688353 | 19:46,318,254 | C/T | — | uncertain significance |
| rs752247079 | 19:46,318,296 | G/T | — | uncertain significance |
| rs151334205 | 19:46,318,329 | G/C | — | uncertain significance |
| rs770658383 | 19:46,318,332 | C/T | — | uncertain significance |
| rs369746898 | 19:46,318,350 | T/C | — | uncertain significance |
| rs748158807 | 19:46,318,382 | C/T | — | uncertain significance |
| rs775123898 | 19:46,318,406 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.