rs369488804

This is a variant in the POLDIP2 gene that changes a alanine to an valine.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters5 publications

Congenital disorders of glycosylation type II; TMEM199-CDG; not provided

View on ClinVar →

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]

View all POLDIP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…