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PITPNM1

Synonyms
DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9
External resources
Summary
PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).

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
8,880
Likely benign
2,789
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PITPNM1 gene.

Phenotype class
Patients in 3billion (%)

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