Home > Gene Browser > GHDC

GHDC

Synonyms
D11LGP1, LGP1
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
14
Likely pathogenic
0
VUS
4,310
Likely benign
18
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on GHDC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of head or neck
42.9%
Abnormality of the cardiovascular system
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of limbs
21.4%
Abnormality of the digestive system
21.4%
Abnormality of the ear
21.4%
Abnormality of the endocrine system
21.4%
Abnormality of the eye
21.4%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the respiratory system
14.3%
Growth abnormality
14.3%
Neoplasm
14.3%
Abnormality of prenatal development or birth
7.1%
Abnormality of the integument
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
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