rs781087974

This variant is located in the MITF gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters

not specified; not provided; Hereditary cancer-predisposing syndrome

About MITF

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

View all MITF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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