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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 Unaffected. 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".

Unaffected Mutations and Variations

Gene Nucleotide
Change		 Amino Acid
Change		 Type Further Details Reference
FGFR2 755C>T S252L  Missense  view Oldridge, 1997
FGFR2 755C>T S252L  Missense  view Oldridge, 1997
FGFR2 755C>T S252L  Missense  view Oldridge, 1997
FGFR2 943G>T A315S  Missense  view Johnson, 2000
FGFR2 943G>T A315S  Missense  view Johnson, 2000
FGFR2 943G>T A315S  Missense  view Johnson, 2000
FGFR2 943G>T A315S  Missense  view Johnson, 2000
FGFR2 943G>T A315S  Missense  view Johnson, 2000
FGFR2 943G>T A315S  Missense  view Johnson, 2000
TWIST 259_260ins3 G86_A87insG  Insertion  view Gripp, 2000
TWIST 259_276del18 A87_G92del6  Deletion  view Elanko, 2001
TWIST 259_276del18 A87_G92del6  Deletion  view Elanko, 2001
TWIST 274_275ins15 G91_G92ins5  Insertion  view Elanko, 2001

Last Updated: 9/30/02

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