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SLC16A12

Synonyms
CJMG, CRT2, CTRCT47, MCT12
External resources
Summary
This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria.

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
20
Likely pathogenic
0
VUS
368
Likely benign
219
Benign
113

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on SLC16A12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25%
Abnormality of the nervous system
20%
Abnormality of the musculoskeletal system
15%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of head or neck
5%
Abnormality of the ear
5%
Abnormality of the eye
5%
Growth abnormality
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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