INPPL1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | inositol polyphosphate phosphatase like 1 |
| EntrezGene | 3636 |
| PheGenI | 3636 |
| VariationViewer | 3636 |
| ClinVar | INPPL1 |
| GeneCards | INPPL1 |
| dbSNP | 3636 |
| Diseases | INPPL1 |
| SADR | 3636 |
| HugeNav | 3636 |
| wikipedia | INPPL1 |
| INPPL1 | |
| gopubmed | INPPL1 |
| EVS | INPPL1 |
| HEFalMp | INPPL1 |
| MyGene2 | INPPL1 |
| 23andMe | INPPL1 |
| UniProt | O15357 |
| Ensembl | ENSG00000165458 |
| OMIM | 600829 |
| # SNPs | 17 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs2276047 | 0 | 72,230,337 | |
| rs2276048 | 0 | 72,230,168 | |
| rs397514508 | 0 | 72,233,099 | |
| rs397514509 | 0 | 72,229,116 | |
| rs397514510 | 0 | 72,233,098 | |
| rs397514511 | 0 | 72,230,799 | |
| rs397514512 | 0 | 72,233,696 | |
| rs655423 | 0 | 72,234,616 | |
| rs746647683 | 0 | 72,229,677 | |
| rs797044468 | 0 | 72,229,677 | |
| rs797044469 | 0 | 72,228,379 | |
| rs797044470 | 0 | 72,225,078 | |
| rs878853119 | 0 | 72,225,008 | |
| rs878853120 | 0 | 72,229,558 | |
| rs878853121 | 0 | 72,232,311 | |
| rs878853122 | 0 | 72,225,019 | |
| rs878853123 | 0 | 72,233,471 |
The inositol polyphosphate phosphatase-like 1 INPPL1 on chromosome 11 encodes the SHIP2 protein.
Homozygous or compound heterozygous mutations in the INPPL1 gene have been reported to cause opsismodysplasia, a rare skeletal dysplasia involving delayed bone maturation that can be fatal within a few years of birth.
In addition to mutations that do currently have rs-ids in dbSNP, mutations leading to opsismodysplasia that lack rs-ids include [PMID 27233067]:
- c.2327-1G>C
- 1150_1151delGA
