FSCN2 Chromosome 17
Fascin actin-bundling protein 2, retinal
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What This Gene Does
This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fascin family
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000186765
Associated Conditions (5)
FSCN2-related disorder
Retinal dystrophy
Retinitis pigmentosa 30
Leber congenital amaurosis
Macular degeneration
Key Variants
RS1048819854
Conflicting classifications of pathogenicity
FSCN2-related disorder, FSCN2-related disorder
Health Risk
RS144409045
Conflicting classifications of pathogenicity
Health Risk
RS1555670704
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS181420326
Conflicting classifications of pathogenicity
Retinitis pigmentosa 30, Retinitis pigmentosa 30
Health Risk
RS181961770
Conflicting classifications of pathogenicity
Health Risk
RS182593453
Conflicting classifications of pathogenicity
Health Risk
RS199541595
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS199574936
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS200600577
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 30, Retinal dystrophy
Health Risk
RS201054437
Conflicting classifications of pathogenicity
Health Risk
RS2032804513
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS368687488
Conflicting classifications of pathogenicity
FSCN2-related disorder, FSCN2-related disorder
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1048819854 | Health Risk | Conflicting classifications of pathogenicity | FSCN2-related disorder, FSCN2-related disorder |
| RS144409045 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555670704 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS181420326 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 30, Retinitis pigmentosa 30 |
| RS181961770 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182593453 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199541595 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS199574936 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS200600577 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 30, Retinal dystrophy |
| RS201054437 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2032804513 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS368687488 | Health Risk | Conflicting classifications of pathogenicity | FSCN2-related disorder, FSCN2-related disorder |
| RS370156011 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 30, Retinitis pigmentosa 30 |
| RS370382419 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373682711 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS376532437 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS376633374 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 30, Leber congenital amaurosis, Macular degeneration |
| RS527747924 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS561020906 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS751919154 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752007056 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753920150 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS760309853 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS769242340 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS779314198 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS782022102 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782188805 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS782333124 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS782414995 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS782741672 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2143845939 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2544448905 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS760738833 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |