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SLC8B1

Synonyms
NCKX6, NCLX, SLC24A6
External resources
Summary
SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004

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
34
Likely pathogenic
0
VUS
8,489
Likely benign
1,562
Benign
0

Patient Phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on SLC8B1 gene are displayed below. The following symptoms were found in patients with a variant in SLC8B1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the eye
38.2%
Abnormality of the musculoskeletal system
32.4%
Abnormality of head or neck
29.4%
Growth abnormality
17.6%
Abnormality of limbs
11.8%
Abnormality of the digestive system
8.8%
Abnormality of the ear
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the integument
5.9%
Neoplasm
5.9%
Abnormality of blood and blood forming tissues
2.9%
Abnormality of metabolism homeostasis
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the cardiovascular system
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the immune system
2.9%
Abnormality of the respiratory system
2.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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