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 |
|---|---|---|---|
| RS1272943113 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1435718430 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1437816655 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554753670 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554762671 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554763035 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1564287871 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1588143112 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease |
| RS1835011473 | Health Risk | Likely pathogenic | — |
| RS1835470775 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1835476174 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1836370529 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1836372698 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease |
| RS2132063794 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2132110332 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2132128455 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539301850 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539396830 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539442748 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539464264 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539464661 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539470786 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS373571535 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS746455518 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS747659617 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS76153575 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Familial pancreatic carcinoma, Thyroid cancer |
| RS776814240 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS780492552 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS876661208 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS876661247 | Health Risk | Likely pathogenic | LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS879254056 | Health Risk | Likely pathogenic | — |
| RS1156243243 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1168470052 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1211403432 | Health Risk | Pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases |
| RS1215220865 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1345228128 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS150882646 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554754342 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554763017 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS1564287793 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P |
| RS1588132672 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1588143215 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1588144707 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1834464693 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1835471115 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2132010730 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2132073231 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539328377 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539433562 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539442673 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |