RSPH14
radial spoke head 14 homolog
Summary
This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs556605808 | 22:23,401,683 | C/T | — | uncertain significance |
| rs775881055 | 22:23,401,731 | A/T | — | uncertain significance |
| rs756308208 | 22:23,401,771 | G/A | — | uncertain significance |
| rs147385961 | 22:23,401,777 | C/T | — | uncertain significance |
| rs145071477 | 22:23,401,822 | G/A | — | uncertain significance |
| rs978606616 | 22:23,401,890 | T/C | — | uncertain significance |
| rs1243181000 | 22:23,404,005 | C/T | — | uncertain significance |
| rs199729382 | 22:23,404,020 | C/T | — | uncertain significance |
| rs566627157 | 22:23,404,077 | G/C | — | uncertain significance |
| rs374603276 | 22:23,406,090 | G/T | — | likely benign |
| rs145095630 | 22:23,406,102 | C/T | — | uncertain significance |
| rs141798865 | 22:23,406,180 | C/T | — | uncertain significance |
| rs758539276 | 22:23,406,270 | C/T | — | uncertain significance |
| rs13056137 | 22:23,407,261 | C/A | regulatory region variant | — |
| rs200556810 | 22:23,476,261 | G/A | — | uncertain significance |
| rs4820539 | 22:23,477,970 | A/T | — | — |
| rs145680788 | 22:23,481,034 | C/T | — | uncertain significance |
| rs371985442 | 22:23,481,048 | G/A | — | likely benign |
| rs376036527 | 22:23,481,057 | A/G | — | uncertain significance |
| rs201236150 | 22:23,481,102 | A/G | — | uncertain significance |
| rs1470660952 | 22:23,482,414 | T/C | — | likely benign |
| rs2070568238 | 22:23,482,466 | T/C | — | uncertain significance |
| rs935227370 | 22:23,482,520 | T/G | — | uncertain significance |
| rs764496143 | 22:23,482,540 | T/C | — | uncertain significance |
| rs893455883 | 22:23,482,558 | G/T | — | uncertain significance |
| rs370863519 | 22:23,482,603 | G/T | — | uncertain significance |
| rs4822369 | 22:23,516,797 | C/A | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.