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 |
|---|---|---|---|
| RS1035054313 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1064797013 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1256215388 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS139344911 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS140066362 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS140151379 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS140808447 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS1410005477 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS141542114 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P |
| RS143479340 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS146106537 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS148059394 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS149456922 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS149540339 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS150344223 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS150784835 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS151323851 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS1554753226 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1588121150 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS199925705 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease |
| RS200130803 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS200595164 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS201284198 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Hepatocellular carcinoma, Charcot-Marie-Tooth disease axonal type 2P |
| RS202166023 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS2132128518 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS2132133868 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS2539470565 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases |
| RS368689811 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS369439346 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P |
| RS372509526 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS373015900 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, LRSAM1-related disorder |
| RS373570877 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS376468970 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS551957380 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS563259179 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS570248730 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS749850642 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, LRSAM1-related disorder, Charcot-Marie-Tooth disease axonal type 2P |
| RS756667241 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS757987823 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases |
| RS760403428 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS763390117 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS765641195 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS765956865 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS766032321 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS766701971 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS771491533 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P |
| RS772202137 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P |
| RS780868977 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS940085400 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS1171946884 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease |