rs552263037

This variant is located in the TRPS1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I

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About TRPS1

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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