LRSAM1 Chromosome 9
Leucine rich repeat and sterile alpha motif containing 1
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What This Gene Does
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"Ring finger proteins|Sterile alpha motif domain containing"
Locus Type
gene with protein product
Location
9q33.3-q34.11
Ensembl
ENSG00000148356
Associated Conditions (12)
Charcot-Marie-Tooth disease axonal type 2P
Inborn genetic diseases
Charcot-Marie-Tooth disease
Hepatocellular carcinoma
LRSAM1-related disorder
Familial pancreatic carcinoma
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
LZTR1-related schwannomatosis
Charcot-Marie-Tooth disease axonal type 2P-AR
Key Variants
RS1035054313
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS1064797013
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS1256215388
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS139344911
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS140066362
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS140151379
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS140808447
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS1410005477
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS141542114
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS143479340
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS146106537
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
Health Risk
RS148059394
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
All Variants (121)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539451092 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539470731 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539470853 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS387907032 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS747130246 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P |
| RS749012928 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P-AR |
| RS752177472 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, LRSAM1-related disorder, Thyroid cancer |
| RS756880678 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases |
| RS759312530 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS767351229 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS775965001 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS786200930 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS866892723 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS886041051 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS961918637 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1315010600 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS138226428 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539464527 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P-AR, Charcot-Marie-Tooth disease axonal type 2P |
| RS746159728 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS797044913 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease |
| RS879253755 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |