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SLCO1C1

Synonyms
OATP-F, OATP1, OATP14, OATP1C1, OATPF, OATPRP5, SLC21A14
External resources
Summary
This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants.

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
30
Likely pathogenic
0
VUS
5,777
Likely benign
781
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on SLCO1C1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
23.3%
Neoplasm
20%
Abnormality of the cardiovascular system
16.7%
Abnormality of the eye
16.7%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the endocrine system
10%
Growth abnormality
10%
Abnormality of limbs
6.7%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of the breast
3.3%
Abnormality of the integument
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
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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