rs1852294117
This variant is located in the PDZD7 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout PDZD7
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
View all PDZD7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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