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MARVELD2

Synonyms
DFNB49, MARVD2, MRVLDC2, Tric
External resources
Summary
The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene.

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
3,558
Likely benign
240
Benign
387

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on MARVELD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55%
Abnormality of the musculoskeletal system
45%
Abnormality of head or neck
40%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
15%
Abnormality of the integument
15%
Growth abnormality
15%
Abnormality of limbs
10%
Neoplasm
10%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Abnormality of the immune system
5%
Abnormality of the respiratory system
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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