MAP1B Chromosome 5

Microtubule associated protein 1B
35 variants 35 Health Risk

Upload your DNA to see your personal genotypes for variants in MAP1B.

What This Gene Does
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000131711
Associated Conditions (12)
Inborn genetic diseases
Hearing loss
autosomal dominant 83
Periventricular nodular heterotopia 9
Periventricular nodular heterotopia
MAP1B-related disorder
6 conditions
White matter deficit
Cognitive impairment
Hypoplasia of the corpus callosum
Autism spectrum disorder
Neurodevelopmental disorder
Key Variants
RS138855050
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144088322
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hearing loss, autosomal dominant 83
Health Risk
RS1554055106
Conflicting classifications of pathogenicity
Periventricular nodular heterotopia, Periventricular nodular heterotopia 9, Periventricular nodular heterotopia
Health Risk
RS1554054827
Likely pathogenic
Periventricular nodular heterotopia, Periventricular nodular heterotopia
Health Risk
RS1747146910
Likely pathogenic
Health Risk
RS1747234497
Likely pathogenic
MAP1B-related disorder, MAP1B-related disorder
Health Risk
RS2111893851
Likely pathogenic
Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
Health Risk
RS2111894733
Likely pathogenic
Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
Health Risk
RS2111894757
Likely pathogenic
Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
Health Risk
RS2112231793
Likely pathogenic
Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
Health Risk
RS2478571532
Likely pathogenic
MAP1B-related disorder, MAP1B-related disorder
Health Risk
RS2478575646
Likely pathogenic
Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
Health Risk
All Variants (35)
RSID Category Clinical Significance Conditions
RS138855050 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144088322 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hearing loss, autosomal dominant 83
RS1554055106 Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia, Periventricular nodular heterotopia 9, Periventricular nodular heterotopia
RS1554054827 Health Risk Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia
RS1747146910 Health Risk Likely pathogenic —
RS1747234497 Health Risk Likely pathogenic MAP1B-related disorder, MAP1B-related disorder
RS2111893851 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2111894733 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2111894757 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2112231793 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478571532 Health Risk Likely pathogenic MAP1B-related disorder, MAP1B-related disorder
RS2478575646 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478576114 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478579416 Health Risk Likely pathogenic —
RS2478744517 Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS1310873497 Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS146324682 Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS1580027036 Health Risk Pathogenic 6 conditions, Periventricular nodular heterotopia 9, 6 conditions
RS1747274021 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2112238696 Health Risk Pathogenic —
RS2478566625 Health Risk Pathogenic Periventricular nodular heterotopia 9, Hearing loss, autosomal dominant 83
RS2478569039 Health Risk Pathogenic MAP1B-related disorder, MAP1B-related disorder
RS2478570422 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478571735 Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478577098 Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478585499 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478587077 Health Risk Pathogenic —
RS371409009 Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS753026898 Health Risk Pathogenic Hearing loss, autosomal dominant 83, Hearing loss
RS1561314246 Health Risk Pathogenic; risk factor White matter deficit, Periventricular nodular heterotopia, Cognitive impairment
RS1561315170 Health Risk Pathogenic; risk factor Cognitive impairment, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum
RS1554054831 Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia 9, MAP1B-related disorder
RS1554054880 Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia 9, Periventricular nodular heterotopia
RS1580026238 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Periventricular nodular heterotopia, Cognitive impairment
RS2478574299 Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia 9, Hearing loss, autosomal dominant 83
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