FANCE Mutations

GENE	FANCE
PolyMut	mutation
Mutation	355C>T
Published Name	355C>T
Amino Acid Change	Q119X
Exon	exon 2
Type	stop codon
Comment
Source	deWinter et al., Am.J.Hum.Genet., 2000
Proper Nomenclature	p.Gln119X
Proper Nomenclature cDNA	c.355C>T

GENE	FANCE
PolyMut	mutation
Mutation	421C>T
Published Name	421C>T
Amino Acid Change	R141X
Exon	exon 2
Type	stop codon
Comment
Source	deWinter et al., Am.J.Hum.Genet., 2000
Proper Nomenclature	p.Arg141X
Proper Nomenclature cDNA	c.421C>T

GENE	FANCE
PolyMut	mutation
Mutation	IVS5-8G>A
Published Name	IVS5-8G>A
Amino Acid Change	R371_I372insLX
Exon	intron 5
Type	RNA splicing
Comment
Source	deWinter et al., Am.J.Hum.Genet., 2000
Proper Nomenclature
Proper Nomenclature cDNA	c.1114-8G>A

GENE	FANCE
PolyMut	mutation
Mutation	1111C>T
Published Name
Amino Acid Change	R371W
Exon	exon 5
Type	AA substitution
Comment
Source
Proper Nomenclature	p.Arg371Trp
Proper Nomenclature cDNA	c.1111C>T

GENE	FANCE
PolyMut	mutation
Mutation	1094G>A
Published Name	1094G>A
Amino Acid Change	R365K
Exon	exon 5
Type	AA substitution
Comment
Source	FA Genes and Familial Breast Cancer
Proper Nomenclature	p.Arg365Lys
Proper Nomenclature cDNA	c.1094G>A

GENE	FANCE
PolyMut	mutation
Mutation	1066G>A
Published Name	1066G>A
Amino Acid Change	S356G
Exon	exon 5
Type	AA substitution
Comment
Source	FA Genes and Familial Breast Cancer
Proper Nomenclature	p.Ser256Gly
Proper Nomenclature cDNA	c.1066G>A

GENE	FANCE
PolyMut	mutation
Mutation	1504G>A
Published Name	1504G>A
Amino Acid Change	A502T
Exon	exon 9
Type	AA substitution
Comment
Source	Seal et al. [2003]
Proper Nomenclature	p.Ala502Thr
Proper Nomenclature cDNA	c.1504G>A