rs886055675

This variant is located in the PAX3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Craniofacial-deafness-hand syndrome; Waardenburg syndrome

About PAX3

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

View all PAX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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