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ASCC3

Synonyms
ASC1p200, HELIC1, RNAH
External resources
Summary
This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. 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
32
Likely pathogenic
16
VUS
15,836
Likely benign
5,280
Benign
0

Patient phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on ASCC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.2%
Abnormality of the eye
27.1%
Abnormality of the musculoskeletal system
27.1%
Abnormality of head or neck
18.8%
Abnormality of the ear
18.8%
Abnormality of limbs
14.6%
Abnormality of the genitourinary system
14.6%
Abnormality of the digestive system
10.4%
Abnormality of the cardiovascular system
6.3%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the integument
4.2%
Growth abnormality
4.2%
Abnormal cellular phenotype
2.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the immune system
2.1%
Abnormality of the respiratory system
2.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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