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KMT2C

Synonyms
HALR, KLEFS2, MLL3
External resources
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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6,600
Likely pathogenic
0
VUS
137,022
Likely benign
68,338
Benign
7,075

Patient phenotypes

Proportions of phenotypes among 6136 patients carring pathogenic or likely pathogenic variants on KMT2C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of the musculoskeletal system
31.1%
Abnormality of the eye
27.3%
Abnormality of head or neck
24.6%
Abnormality of the cardiovascular system
23.5%
Abnormality of the ear
14.6%
Growth abnormality
14%
Abnormality of the integument
13.4%
Abnormality of limbs
12.7%
Abnormality of the genitourinary system
11.5%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
7.2%
Abnormality of the endocrine system
4.5%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the respiratory system
4.4%
Neoplasm
3.4%
Abnormality of prenatal development or birth
3.3%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.8%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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