rs139490054

This variant is located in the AFF4 gene.

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ClinVar annotation

Benign★★★☆
4 submitters2 publications

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome; not provided; AFF4-related disorder

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About AFF4

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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