| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.070 | GeneticVariation | BEFREE | Background Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C>A or c.1620C>G (p.Asn540Lys) appear to have a more severe phenotype than those with HCH without these mutations. | 30335613 | 2018 |
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0.070 | GeneticVariation | BEFREE | Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH. | 16575888 | 2006 |
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0.070 | GeneticVariation | BEFREE | This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test. | 15345118 | 2004 |
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0.070 | GeneticVariation | BEFREE | Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia. | 11055896 | 2000 |
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0.070 | GeneticVariation | BEFREE | The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. | 10360393 | 1999 |
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0.070 | GeneticVariation | BEFREE | Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood. | 9672519 | 1998 |
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0.070 | GeneticVariation | BEFREE | Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. | 9842995 | 1998 |