rs201809411

This variant is located in the RECQL4 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Baller-Gerold syndrome; not provided

About RECQL4

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

View all RECQL4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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