Have questions? Visit https://www.reddit.com/r/SNPedia

INPPL1

From SNPedia

is agene
is mentioned by
Full nameinositol polyphosphate phosphatase like 1
EntrezGene3636
PheGenI3636
VariationViewer3636
ClinVarINPPL1
GeneCardsINPPL1
dbSNP3636
SADR3636
HugeNav3636
wikipediaINPPL1
googleINPPL1
gopubmedINPPL1
EVSINPPL1
HEFalMpINPPL1
MyGene2INPPL1
23andMeINPPL1
UniProtO15357
EnsemblENSG00000165458
OMIM600829
# SNPs18
 Max MagnitudeChromosome positionSummary
rs227604772,230,337
rs227604872,230,168
rs397514508072,233,099
rs397514509072,229,116
rs397514510072,233,098
rs397514511072,230,799
rs397514512072,233,696
rs655423072,234,616
rs746647683072,229,677
rs79704446872,229,677
rs79704446972,228,379
rs79704447072,225,078
rs878853119072,225,008
rs878853120072,229,558
rs878853121
rs878853122072,225,019
rs878853123072,233,471

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