FGF16 Chromosome X
Fibroblast growth factor 16
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What This Gene Does
This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Fibroblast growth factor family
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000196468
Associated Conditions (2)
FGF16-related disorder
Syndactyly type 8
Key Variants
RS2519850121
Likely pathogenic
FGF16-related disorder, FGF16-related disorder
Health Risk
RS606231304
Likely pathogenic
Syndactyly type 8, Syndactyly type 8
Health Risk
RS587777050
Pathogenic
Syndactyly type 8, Syndactyly type 8
Health Risk
RS587777051
Pathogenic
Syndactyly type 8, Syndactyly type 8
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519850121 | Health Risk | Likely pathogenic | FGF16-related disorder, FGF16-related disorder |
| RS606231304 | Health Risk | Likely pathogenic | Syndactyly type 8, Syndactyly type 8 |
| RS587777050 | Health Risk | Pathogenic | Syndactyly type 8, Syndactyly type 8 |
| RS587777051 | Health Risk | Pathogenic | Syndactyly type 8, Syndactyly type 8 |