rs782531869

This is a variant in the POLDIP2 gene that changes a arginine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters4 publications

Congenital disorders of glycosylation type II; TMEM199-CDG; TMEM199-related disorder

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About POLDIP2

This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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