CHL1 Chromosome 3
Cell adhesion molecule L1 like
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What This Gene Does
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
3p26.3
Ensembl
ENSG00000134121
Associated Conditions (1)
CHL1-related disorder
Key Variants
RS141760963
Conflicting classifications of pathogenicity
Health Risk
RS147811720
Conflicting classifications of pathogenicity
CHL1-related disorder, CHL1-related disorder
Health Risk
RS148331501
Conflicting classifications of pathogenicity
Health Risk
RS186218301
Conflicting classifications of pathogenicity
Health Risk
RS369767790
Conflicting classifications of pathogenicity
Health Risk
RS775757574
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141760963 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147811720 | Health Risk | Conflicting classifications of pathogenicity | CHL1-related disorder, CHL1-related disorder |
| RS148331501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186218301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369767790 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775757574 | Health Risk | Conflicting classifications of pathogenicity | — |