CLTC Chromosome 17
Clathrin heavy chain
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What This Gene Does
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Clathrin subunits
Locus Type
gene with protein product
Location
17q23.1
Ensembl
ENSG00000141367
Associated Conditions (10)
Inborn genetic diseases
Intellectual disability
autosomal dominant 56
Neurodevelopmental disorder
See cases
Global developmental delay
CLTC-related disorder
Noonan syndrome 3
Autosomal dominant non-syndromic intellectual disability
Abnormal corpus callosum morphology
Key Variants
RS1350358889
Conflicting classifications of pathogenicity
Health Risk
RS143886947
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 56
Health Risk
RS1598233581
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 56, Intellectual disability
Health Risk
RS188309190
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2032979866
Conflicting classifications of pathogenicity
Health Risk
RS2509144215
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 56, Intellectual disability
Health Risk
RS2509155001
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 56, Intellectual disability
Health Risk
RS2509170720
Conflicting classifications of pathogenicity
Health Risk
RS373338446
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376231357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755404780
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 56, Intellectual disability
Health Risk
RS760880148
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 56, Intellectual disability
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555606635 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 56, Intellectual disability |
| RS367867382 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 56, Intellectual disability |