LAMA1 Chromosome 18
Laminin subunit alpha 1
Upload your DNA to see your personal genotypes for variants in LAMA1.
What This Gene Does
This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Laminin subunits
Locus Type
gene with protein product
Location
18p11.31
Ensembl
ENSG00000101680
Associated Conditions (16)
LAMA1-related disorder
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Inborn genetic diseases
Intellectual disability
Hepatocellular carcinoma
Optic atrophy
Retinal dystrophy
See cases
Thymoma
Sarcoma
Glioma susceptibility 1
Muscular dystrophy
congenital
merosin deficient or partially deficient
Familial cancer of breast
Lung cancer
Key Variants
RS115759032
Conflicting classifications of pathogenicity
LAMA1-related disorder, LAMA1-related disorder
Health Risk
RS116690149
Conflicting classifications of pathogenicity
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases, LAMA1-related disorder
Health Risk
RS117433399
Conflicting classifications of pathogenicity
LAMA1-related disorder, LAMA1-related disorder
Health Risk
RS139713073
Conflicting classifications of pathogenicity
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Health Risk
RS141405588
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141657203
Conflicting classifications of pathogenicity
Health Risk
RS141851670
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA1-related disorder, Intellectual disability
Health Risk
RS141914419
Conflicting classifications of pathogenicity
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases, Hepatocellular carcinoma
Health Risk
RS142286229
Conflicting classifications of pathogenicity
LAMA1-related disorder, Optic atrophy, Retinal dystrophy
Health Risk
RS142934543
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Retinal dystrophy
Health Risk
RS143853128
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA1-related disorder, Inborn genetic diseases
Health Risk
RS144278838
Conflicting classifications of pathogenicity
See cases, LAMA1-related disorder, See cases
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS930107993 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, congenital, merosin deficient or partially deficient |
| RS1043216324 | Health Risk | Likely pathogenic | — |
| RS1057517756 | Health Risk | Likely pathogenic | — |
| RS1064795464 | Health Risk | Likely pathogenic | — |
| RS1178467103 | Health Risk | Likely pathogenic | — |
| RS1190465913 | Health Risk | Likely pathogenic | — |
| RS1555640521 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1555643185 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1555658551 | Health Risk | Likely pathogenic | — |
| RS2057544094 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2057610007 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2057730983 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2058035458 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2143782472 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2143969631 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2143975890 | Health Risk | Likely pathogenic | — |
| RS2144035234 | Health Risk | Likely pathogenic | — |
| RS2144047886 | Health Risk | Likely pathogenic | — |
| RS2510059044 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510059095 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510074434 | Health Risk | Likely pathogenic | — |
| RS2510085780 | Health Risk | Likely pathogenic | — |
| RS2510814886 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510850080 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS376011036 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS746280012 | Health Risk | Likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS773457070 | Health Risk | Likely pathogenic | — |
| RS797044940 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS898673491 | Health Risk | Likely pathogenic | — |
| RS1131691789 | Health Risk | Pathogenic | — |
| RS1178073729 | Health Risk | Pathogenic | — |
| RS1236564978 | Health Risk | Pathogenic | — |
| RS1457194859 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1568019012 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1568043236 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS1598328279 | Health Risk | Pathogenic | — |
| RS2057660103 | Health Risk | Pathogenic | — |
| RS2057777177 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2057789980 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2057848462 | Health Risk | Pathogenic | — |
| RS2143999488 | Health Risk | Pathogenic | — |
| RS2144036802 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2144126463 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2144143962 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2144167132 | Health Risk | Pathogenic | — |
| RS2144180003 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2144193240 | Health Risk | Pathogenic | — |
| RS2144202430 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| RS2510067452 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510067521 | Health Risk | Pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |