FLRT3 Chromosome 20
Fibronectin leucine rich transmembrane protein 3
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What This Gene Does
This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
20p12.1
Ensembl
ENSG00000125848
Associated Conditions (4)
FLRT3-related disorder
Hypogonadotropic hypogonadism 21 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
SUSCEPTIBILITY TO
Key Variants
RS202177618
Conflicting classifications of pathogenicity
FLRT3-related disorder, FLRT3-related disorder
Health Risk
RS398124654
Pathogenic
Hypogonadotropic hypogonadism 21 with or without anosmia, Hypogonadotropic hypogonadism 21 with or without anosmia
Health Risk
RS398124651
risk factor
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
Health Risk
RS398124652
risk factor
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
Health Risk
RS398124653
risk factor
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202177618 | Health Risk | Conflicting classifications of pathogenicity | FLRT3-related disorder, FLRT3-related disorder |
| RS398124654 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 21 with or without anosmia, Hypogonadotropic hypogonadism 21 with or without anosmia |
| RS398124651 | Health Risk | risk factor | HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA |
| RS398124652 | Health Risk | risk factor | HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA |
| RS398124653 | Health Risk | risk factor | HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA |