rs768825050

This is a stop gained variant in the XRCC4 gene.

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ClinVar annotation

Pathogenic★★★☆

4 submitters6 publications

Short stature, microcephaly, and endocrine dysfunction (SSMED)

About XRCC4

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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