FANCD2 Polymorphisms

GENE	FANCD2
PolyMut	polymorphism
Mutation	1122A>G
Published Name	1122A/G
Amino Acid Change	V374V
Exon	exon 14
Type	no change
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Val375Val
Proper Nomenclature cDNA	c.NM_033084.1:c.1122A>G

GENE	FANCD2
PolyMut	polymorphism
Mutation	1440T>C
Published Name	1440T/C
Amino Acid Change	H480H
Exon	exon 17
Type	no change
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.His480His
Proper Nomenclature cDNA	c.NM_033084.1:c.1440T>C

GENE	FANCD2
PolyMut	polymorphism
Mutation	1509C>T
Published Name	1509C/T
Amino Acid Change	N503N
Exon	exon 17
Type	no change
Comment
Source	Grompe et al., Molecular Cell, 2001
Proper Nomenclature	p.Asn503Asn
Proper Nomenclature cDNA	c.NM_033084.1:c.1509T>C

GENE	FANCD2
PolyMut	polymorphism
Mutation	2141C>T
Published Name	2141C>T
Amino Acid Change	L714P
Exon	exon 23
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell 2001
Proper Nomenclature	p.Leu714Pro
Proper Nomenclature cDNA	c.NM_033084.1:c.2141C>T

GENE	FANCD2
PolyMut	polymorphism
Mutation	2259T>C
Published Name	2259T>C
Amino Acid Change	D753D
Exon	exon 24
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell 2001
Proper Nomenclature	p.Asp753Asp
Proper Nomenclature cDNA	c.NM_033084.1:c.2259T>C

GENE	FANCD2
PolyMut	polymorphism
Mutation	4098T>G
Published Name	4098
Amino Acid Change	L1366L
Exon	exon 42
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell 2001
Proper Nomenclature	p.Leu1366Leu
Proper Nomenclature cDNA	c.NM_033084.1:c.4098T>G

GENE	FANCD2
PolyMut	polymorphism
Mutation	4453G>A
Published Name	4453G>A
Amino Acid Change	3'UTR
Exon
Type	AA substitution
Comment
Source	Grompe et al., Molecular Cell 2001
Proper Nomenclature
Proper Nomenclature cDNA	c.NM_033084.1:c.4435G>A