Gene entry
MITF
melanocyte inducing transcription factor
- Chromosome
- 3
- Cytoband
- 3p13
- Variants (rsID)
- 38
MITF is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p13). Its official name is “melanocyte inducing transcription factor”. The reference table lists 38 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs137904015Benignsingle nucleotide variantWaardenburg syndrome type 2A|Tietz syndrome
- rs55754687Likely benignsingle nucleotide variant
- rs104893746Pathogenicsingle nucleotide variantWaardenburg syndrome type 2A|Hearing impairment|Heterochromia iridis|Prelingual sensorineural hearing impairment|Poliosis|Ear malformation
- rs149617956Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 8|Hereditary cancer-predisposing syndrome|Waardenburg syndrome type 2A|Tietz syndrome|Melanoma, cutaneous malignant, susceptibility to, 8|Melanoma|Waardenburg syndrome type 2A|Melanoma, cutaneous malignant, susceptibility to, 8|Tietz syndrome
Other listed variants
- rs724794
- rs4855447
- rs6549250
- rs6777363
- rs7430957
- rs7651218
- rs9714093
- rs9869047
- rs10510992
- rs12489786
- rs12494548
- rs17006574
- rs62253175
- rs62253188
- rs72950056
- rs73117331
- rs73838671
- rs75720739
- rs76437415
- rs77243159
- rs77989649
- rs78338868
- rs78804600
- rs78841078
- rs113977130
- rs115256217
- rs116224392
- rs116359091
- rs116505162
- rs139915577
- rs140374965
- rs186350312
- rs200583343
- rs547967985
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.