Home > Gene Browser > CCDC170

CCDC170

Synonyms
C6orf97, bA282P11.1
External resources
Summary
The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found.

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
59
Likely pathogenic
60
VUS
3,667
Likely benign
701
Benign
0

Patient phenotypes

Proportions of phenotypes among 117 patients carring pathogenic or likely pathogenic variants on CCDC170 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.6%
Abnormality of the musculoskeletal system
29.9%
Abnormality of the eye
23.1%
Abnormality of head or neck
19.7%
Abnormality of the ear
19.7%
Abnormality of the cardiovascular system
14.5%
Growth abnormality
13.7%
Abnormality of limbs
12.8%
Abnormality of the genitourinary system
12.8%
Abnormality of the integument
7.7%
Abnormality of blood and blood-forming tissues
6%
Abnormality of the digestive system
6%
Abnormality of the endocrine system
6%
Abnormality of the respiratory system
5.1%
Abnormality of prenatal development or birth
4.3%
Abnormality of the immune system
4.3%
Abnormality of the voice
0.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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