CLTCL1 Chromosome 22
Clathrin heavy chain like 1
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What This Gene Does
This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Clathrin subunits
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000070371
Associated Conditions (3)
Clear cell carcinoma of kidney
Familial cancer of breast
CLTCL1-related disorder
Key Variants
RS140709833
Conflicting classifications of pathogenicity
Clear cell carcinoma of kidney, Familial cancer of breast, Clear cell carcinoma of kidney
Health Risk
RS145514163
Conflicting classifications of pathogenicity
Health Risk
RS184612047
Conflicting classifications of pathogenicity
Health Risk
RS199652160
Conflicting classifications of pathogenicity
Health Risk
RS371789769
Conflicting classifications of pathogenicity
CLTCL1-related disorder, CLTCL1-related disorder
Health Risk
RS372594770
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140709833 | Health Risk | Conflicting classifications of pathogenicity | Clear cell carcinoma of kidney, Familial cancer of breast, Clear cell carcinoma of kidney |
| RS145514163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184612047 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199652160 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371789769 | Health Risk | Conflicting classifications of pathogenicity | CLTCL1-related disorder, CLTCL1-related disorder |
| RS372594770 | Health Risk | Conflicting classifications of pathogenicity | — |