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PIP5KL1

Synonyms
PIPKH
External resources
Summary
PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
5,593
Likely benign
296
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PIP5KL1 gene.

Phenotype class
Patients in 3billion (%)

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