LRRC32 Chromosome 11
Leucine rich repeat containing 32
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What This Gene Does
This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Cleft palate
proliferative retinopathy
and developmental delay
Global developmental delay
Vitreoretinopathy
Key Variants
RS1251757869
Likely pathogenic
Cleft palate, proliferative retinopathy, and developmental delay
Health Risk
RS2120049760
Likely pathogenic
Cleft palate, proliferative retinopathy, and developmental delay
Health Risk
RS369867819
Pathogenic/Likely pathogenic
Global developmental delay, Cleft palate, Vitreoretinopathy
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1251757869 | Health Risk | Likely pathogenic | Cleft palate, proliferative retinopathy, and developmental delay |
| RS2120049760 | Health Risk | Likely pathogenic | Cleft palate, proliferative retinopathy, and developmental delay |
| RS369867819 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Cleft palate, Vitreoretinopathy |