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GC

Synonyms
DBP, DBP-maf, DBP/GC, GRD3, Gc-MAF, GcMAF, HEL-S-51, VDB, VDBG, VDBP
External resources
Summary
The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
20
Likely pathogenic
242
VUS
4,316
Likely benign
226
Benign
0

Patient Phenotypes

Proportions of phenotypes among 262 patients carrying pathogenic or likely pathogenic variants on GC gene are displayed below. The following symptoms were found in patients with a variant in GC. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
53.1%
Abnormality of the nervous system
29%
Abnormality of the musculoskeletal system
21%
Abnormality of head or neck
10.7%
Growth abnormality
7.6%
Abnormality of the genitourinary system
7.3%
Abnormality of the ear
5%
Abnormality of blood and blood forming tissues
4.6%
Abnormality of limbs
4.6%
Abnormality of the integument
4.6%
Abnormality of the immune system
4.2%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the cardiovascular system
2.7%
Abnormality of the endocrine system
2.7%
Neoplasm
2.3%
Abnormality of the respiratory system
1.9%
Abnormality of prenatal development or birth
1.5%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0.8%
Abnormality of the voice
0.4%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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