LAMA5 Chromosome 20

Laminin subunit alpha 5
81 variants 81 Health Risk

Upload your DNA to see your personal genotypes for variants in LAMA5.

What This Gene Does
This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Laminin subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000130702
Associated Conditions (12)
Polymicrogyria
LAMA5-related disorder
Inborn genetic diseases
Severe hydrocephalus
Holoprosencephaly sequence
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Nephrotic syndrome
IIa 26
Gastric cancer
Colon adenocarcinoma
Developmental disorder
Key Variants
RS111653839
Conflicting classifications of pathogenicity
Polymicrogyria, LAMA5-related disorder, Polymicrogyria
Health Risk
RS113149937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113371619
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
RS117678561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266350933
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
RS139412622
Conflicting classifications of pathogenicity
LAMA5-related disorder, LAMA5-related disorder
Health Risk
RS139502000
Conflicting classifications of pathogenicity
Polymicrogyria, Polymicrogyria
Health Risk
RS140700430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141366910
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141989486
Conflicting classifications of pathogenicity
Severe hydrocephalus, Holoprosencephaly sequence, Severe hydrocephalus
Health Risk
RS143341174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Clear cell carcinoma of kidney, Malignant tumor of esophagus
Health Risk
RS143386487
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
All Variants (81)
RSID Category Clinical Significance Conditions
RS111653839 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, LAMA5-related disorder, Polymicrogyria
RS113149937 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113371619 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
RS117678561 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1266350933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
RS139412622 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS139502000 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, Polymicrogyria
RS140700430 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141366910 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141989486 Health Risk Conflicting classifications of pathogenicity Severe hydrocephalus, Holoprosencephaly sequence, Severe hydrocephalus
RS143341174 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney, Malignant tumor of esophagus
RS143386487 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
RS144009130 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS144219663 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144323773 Health Risk Conflicting classifications of pathogenicity
RS144368979 Health Risk Conflicting classifications of pathogenicity
RS144740011 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS144781761 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145203663 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146005902 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147702216 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147777385 Health Risk Conflicting classifications of pathogenicity
RS148682538 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149358620 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder
RS150860855 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
RS150944918 Health Risk Conflicting classifications of pathogenicity
RS151209097 Health Risk Conflicting classifications of pathogenicity
RS1601356283 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, IIa 26, Nephrotic syndrome
RS189209648 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200103455 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer, Inborn genetic diseases
RS200525579 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200951269 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201066079 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder
RS201130283 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder
RS201193135 Health Risk Conflicting classifications of pathogenicity
RS201303962 Health Risk Conflicting classifications of pathogenicity
RS201837442 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202130407 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370940497 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, IIa 26, Nephrotic syndrome
RS371353573 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372622372 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373177574 Health Risk Conflicting classifications of pathogenicity
RS375523467 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases, Nephrotic syndrome
RS375718055 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder
RS375978861 Health Risk Conflicting classifications of pathogenicity
RS376319946 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376938303 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Colon adenocarcinoma, Malignant tumor of esophagus
RS527608109 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases, LAMA5-related disorder
RS534944818 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538749758 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder
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