You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
MITF R217G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Waardenburg syndrome type 2A, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us