Home > Gene Browser > ARL6IP4

ARL6IP4

Synonyms
SFRS20, SR-25, SRp25, SRrp37
External resources

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
57
Likely pathogenic
0
VUS
3,371
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 57 patients carring pathogenic or likely pathogenic variants on ARL6IP4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
61.4%
Abnormality of the nervous system
22.8%
Abnormality of head or neck
12.3%
Abnormality of the musculoskeletal system
10.5%
Growth abnormality
10.5%
Abnormality of the digestive system
8.8%
Abnormality of the endocrine system
7%
Abnormality of limbs
5.3%
Abnormality of the ear
5.3%
Abnormality of the immune system
5.3%
Neoplasm
5.3%
Abnormality of the cardiovascular system
3.5%
Abnormality of the integument
3.5%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of the genitourinary system
1.8%
Abnormality of the respiratory system
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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