rs774528745

This is a variant in the PAX3 gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★★★☆

7 submitters9 publications

Alveolar rhabdomyosarcoma (RMS2); Craniofacial-deafness-hand syndrome (CDHS); Waardenburg syndrome type 1 (WS1); Waardenburg syndrome type 3 (WS3)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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