Home > Gene Browser > CLDN17

CLDN17

Synonyms
-
External resources
Summary
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with CLDN8 on chromosome 21q22.11.

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
8
Likely pathogenic
0
VUS
422
Likely benign
265
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on CLDN17 gene are displayed below. The following symptoms were found in patients with a variant in CLDN17. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of the musculoskeletal system
37.5%
Growth abnormality
37.5%
Abnormality of head or neck
25%
Abnormality of metabolism homeostasis
25%
Abnormality of prenatal development or birth
25%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of the digestive system
12.5%
Abnormality of the ear
12.5%
Abnormality of the immune system
12.5%
Abnormality of the respiratory system
12.5%
Constitutional symptom
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.