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LRPAP1

Synonyms
A2MRAP, A2RAP, HBP44, MRAP, MYP23, RAP, alpha-2-MRAP
External resources
Summary
This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants.

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
9
Likely pathogenic
0
VUS
2,018
Likely benign
3,231
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on LRPAP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the cardiovascular system
22.2%
Abnormality of the immune system
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the nervous system
11.1%
Constitutional symptom
11.1%
Abnormal cellular phenotype
0%
Abnormality of head or neck
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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