Home > Gene Browser > GIPC1

GIPC1

Synonyms
C19orf3, GIPC, GLUT1CBP, Hs.6454, IIP-1, NIP, OPDM2, RGS19IP1, SEMCAP, SYNECTIIN, SYNECTIN, TIP-2
External resources
Summary
GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008

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
4
Likely pathogenic
0
VUS
2,283
Likely benign
2,530
Benign
432

Patient Phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on GIPC1 gene are displayed below. The following symptoms were found in patients with a variant in GIPC1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the ear
33.3%
Abnormality of the immune system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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