rs780285435
This variant is located in the RECQL4 gene.
▶ClinVar annotation
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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