FANCD2 Mutations

GENE	FANCD2
PolyMut	mutation
Mutation	376A>G
Published Name	376A>G
Amino Acid Change	S126G
Exon	exon 5
Type	RNA splicing
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Ser126Gly
Proper Nomenclature cDNA	c.376A>G

GENE	FANCD2
PolyMut	mutation
Mutation	3707G>A
Published Name	3707G>A
Amino Acid Change	R1236H
Exon	exon 37
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Arg1236His
Proper Nomenclature cDNA	c.3707G>A

GENE	FANCD2
PolyMut	mutation
Mutation	904C>T
Published Name	904C>T
Amino Acid Change	R302W
Exon	exon 12
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Arg302Trp
Proper Nomenclature cDNA	c.904C>T

GENE	FANCD2
PolyMut	mutation
Mutation	958C>T
Published Name	958C>T
Amino Acid Change	Q320X
Exon	exon 12
Type	stop codon
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Gln320X
Proper Nomenclature cDNA	c.958C>T

GENE	FANCD2
PolyMut	mutation
Mutation	Exon 17del
Published Name	Exon 17del
Amino Acid Change
Exon	exon 18
Type	exon skip
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature
Proper Nomenclature cDNA