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RIF1

Synonyms
-
External resources
Summary
This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants.

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
47
Likely pathogenic
166
VUS
21,581
Likely benign
13,909
Benign
0

Patient phenotypes

Proportions of phenotypes among 209 patients carrying pathogenic or likely pathogenic variants on RIF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.7%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the cardiovascular system
25.4%
Abnormality of the eye
20.1%
Abnormality of head or neck
19.1%
Abnormality of the ear
15.3%
Abnormality of the integument
11%
Abnormality of limbs
10.5%
Growth abnormality
9.6%
Abnormality of the genitourinary system
9.1%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the respiratory system
6.2%
Abnormality of the endocrine system
4.3%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of prenatal development or birth
2.9%
Neoplasm
1.9%
Constitutional symptom
1%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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