Home > Gene Browser > KMT2C
KMT2C
- Synonyms
- HALR, KLEFS2, MLL3
- External resources
- NCBI58508
- OMIM606833
- EnsemblENSG00000055609
- HGNCHGNC:13726
- Summary
- This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 16,174
- Likely pathogenic
- 20,576
- VUS
- 291,481
- Likely benign
- 380,005
- Benign
- 12,587
Patient phenotypes
Proportions of phenotypes among 18130 patients carrying pathogenic or likely pathogenic variants on KMT2C gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 37.5%
- Abnormality of the musculoskeletal system
- 25.2%
- Abnormality of the eye
- 20.3%
- Abnormality of the cardiovascular system
- 19.5%
- Abnormality of head or neck
- 19.3%
- Abnormality of the ear
- 12.7%
- Growth abnormality
- 11.6%
- Abnormality of the integument
- 10.1%
- Abnormality of the genitourinary system
- 9.8%
- Abnormality of limbs
- 9.6%
- Abnormality of the digestive system
- 7.1%
- Abnormality of the immune system
- 6.2%
- Abnormality of blood and blood-forming tissues
- 5.3%
- Abnormality of the endocrine system
- 4%
- Abnormality of the respiratory system
- 3.4%
- Neoplasm
- 2.6%
- Abnormality of prenatal development or birth
- 2.3%
- Constitutional symptom
- 1.2%
- Abnormal cellular phenotype
- 0.7%
- Abnormality of the breast
- 0.6%
- Abnormality of the voice
- 0.4%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of metabolism homeostasis
- 0%
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