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CWF19L1

Synonyms
C19L1, SCAR17, hDrn1
External resources
Summary
This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. 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
7
Likely pathogenic
0
VUS
1,647
Likely benign
2,041
Benign
5,153

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on CWF19L1 gene are displayed below. The following symptoms were found in patients with a variant in CWF19L1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
71.4%
Abnormality of the nervous system
71.4%
Abnormality of head or neck
57.1%
Abnormality of the eye
42.9%
Growth abnormality
42.9%
Abnormality of prenatal development or birth
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune 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%
Neoplasm
0%

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