ITPK1
inositol-tetrakisphosphate 1-kinase
Summary
This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375961844 | 14:93,404,833 | C/T | — | uncertain significance |
| rs536262739 | 14:93,407,913 | G/A | — | uncertain significance |
| rs762067896 | 14:93,407,928 | G/A | — | uncertain significance |
| rs772011440 | 14:93,407,937 | G/A | — | uncertain significance |
| rs773370289 | 14:93,407,962 | G/A | — | uncertain significance |
| rs765232616 | 14:93,407,968 | C/T | — | likely benign |
| rs1043699202 | 14:93,407,971 | C/T | — | likely benign |
| rs780517027 | 14:93,407,997 | G/A | — | uncertain significance |
| rs574548381 | 14:93,408,013 | C/T | — | likely benign |
| rs2504276836 | 14:93,408,016 | C/T | — | uncertain significance |
| rs773101530 | 14:93,408,019 | C/T | — | uncertain significance |
| rs758493252 | 14:93,408,064 | C/T | — | likely benign |
| rs561937783 | 14:93,408,082 | C/T | — | uncertain significance |
| rs1461095085 | 14:93,408,099 | C/T | — | uncertain significance |
| rs534825616 | 14:93,408,151 | C/T | — | uncertain significance |
| rs764722690 | 14:93,408,172 | T/C | — | uncertain significance |
| rs370384697 | 14:93,412,700 | C/T | — | uncertain significance |
| rs757209932 | 14:93,412,703 | C/T | — | uncertain significance |
| rs554644267 | 14:93,412,733 | T/C | — | uncertain significance |
| rs766837222 | 14:93,412,760 | G/T | — | uncertain significance |
| rs759853041 | 14:93,412,777 | C/T | — | uncertain significance |
| rs754696344 | 14:93,412,802 | C/T | — | uncertain significance |
| rs150527709 | 14:93,412,810 | C/T | — | uncertain significance |
| rs766340814 | 14:93,418,327 | G/C | — | uncertain significance |
| rs1297242538 | 14:93,424,596 | T/C | — | uncertain significance |
| rs2504373021 | 14:93,424,711 | T/A | — | uncertain significance |
| rs749221560 | 14:93,428,710 | T/C | — | uncertain significance |
| rs753307449 | 14:93,429,131 | C/T | — | uncertain significance |
| rs149380374 | 14:93,429,157 | C/T | — | likely benign |
| rs2504526157 | 14:93,460,321 | C/T | — | uncertain significance |
| rs201813148 | 14:93,460,333 | C/T | — | uncertain significance |
| rs75036981 | 14:93,463,880 | G/A | intron variant | — |
| rs752269053 | 14:93,483,052 | C/T | — | uncertain significance |
| rs8006385 | 14:93,501,026 | A/G | regulatory region variant | — |
| rs12894780 | 14:93,503,386 | T/C | regulatory region variant | — |
| rs66800452 | 14:93,505,385 | T/A | — | — |
| rs1956028 | 14:93,507,197 | T/C | intron variant | — |
| rs28688110 | 14:93,511,785 | A/T | regulatory region variant | — |
| rs36084521 | 14:93,516,398 | T/G | regulatory region variant | — |
| rs116626996 | 14:93,519,003 | G/A | intron variant | — |
| rs141628175 | 14:93,542,941 | T/C | — | uncertain significance |
| rs35332045 | 14:93,554,218 | G/A | intron variant | — |
| rs74684644 | 14:93,554,508 | C/T | intron variant | — |
| rs71430783 | 14:93,558,453 | G/T | intron variant | — |
| rs34719890 | 14:93,560,151 | G/A | intron variant | — |
| rs12431502 | 14:93,564,264 | G/A | intron variant | — |
| rs6575306 | 14:93,565,216 | A/G | intron variant | — |
| rs8015809 | 14:93,566,800 | A/C | — | — |
| rs10139757 | 14:93,567,879 | A/C | intron variant | — |
| rs8013691 | 14:93,569,531 | T/C | — | — |
| rs1108990 | 14:93,571,888 | G/A | regulatory region variant | — |
| rs9672082 | 14:93,572,855 | T/C | intron variant | — |
| rs139316751 | 14:93,581,838 | C/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.