LRRCC1 Chromosome 8
Leucine rich repeat and coiled-coil centrosomal protein 1
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What This Gene Does
This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]
Associated Conditions (1)
Joubert syndrome and related disorders
Key Variants
RS191037362
Conflicting classifications of pathogenicity
Health Risk
RS201637203
Conflicting classifications of pathogenicity
Health Risk
RS74339310
Conflicting classifications of pathogenicity
Health Risk
RS765839225
Conflicting classifications of pathogenicity
Health Risk
RS886039794
Pathogenic
Joubert syndrome and related disorders, Joubert syndrome and related disorders
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS191037362 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201637203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74339310 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765839225 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886039794 | Health Risk | Pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |