J-GLOBAL ID:201410055774142365   Research Resource code:NBDC00553 Update date:Aug. 10, 2020

Lowe Syndrome Mutation Database

Lowe Syndrome Mutation Database
Owning Organization:
  • National Human Genome Research Institute, National Institute of Health
Resource classification: Data,Database
Tag (subject)  (4): Genome/Gene ,  cDNA/EST ,  Protein ,  Health/Disease
Tag (data type)  (1): Sequence
Species (1): Homo sapiens (NCBI Taxonomy ID: 9606)
This is a database specifically for mutations in the OCRL1 gene, known to cause Lowe syndrome with primary symptoms such as congenital cataracts, mental retardation, and renal tubular acidosis.
This site was retired, and all data were transfered to the ClinVar (
Source: NBDC
Record maintainer: Integbio Database Catalog
Record license: Creative Commons CC0 license

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