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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human craniofacial condition Non-Sydromic Craniosynostosis. The table gives information on the mutant gene, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

Non-Sydromic Craniosynostosis Mutations and Variations

Gene Nucleotide
Change
Amino Acid
Change
Type Further Details Reference
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1032G>A A344A  Missense  view Reardon, 1994
FGFR2 1977G>T K659N  Missense  view Kan Sh, 2002
FGFR2 943G>T A315S  Missense  view Johnson, 2000

Last Updated: 9/30/02

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