Xeroderma Pigmentosum Allele Entry Worksheet
A. PATIENT INFORMATION
Subject identifier:
Cell line identifier:
Cell lines available?	no yes
NIGMS deposit?	no yes catalog number:	[NIGMS]
ATCC deposit?	no yes catalog number:	[ATCC]
Other cell bank?	no yes catalog number:
Is this case or cell line published?	no yes if yes, give PubMed ID(s):	[PubMed]
B. PHENOTYPE
Signs of Xeroderma Pigmentosum?
Signs of Cockayne's Syndrome?
Signs of Trichothiodystrophy?
Skin UV-sensitivity:
Cell-line UV-sensitivity:
Cancer?
Hair:
CNS:
Development:
Age at biopsy:
Age of last report:
Age of death:
C. GENE INFORMATION
Which XP gene?	XPA XPB XPC XPD XPE - DDB1 XPE - DDB2 XPF XPG XP-Variant CSA CSB other unknown if other, specify:
which species?	human mouse fish
D. ALLELE INFORMATION
Mutation or polymorphism?	mutation polymorphism
Nucleotide change:	substitution deletion insertion complex unknown other if other, describe:
Mutation location:	exon intron 5' UTR 3' UTR outside transcription unit
Formal mutation descriptor (eg C205G):		link to nomenclature papers
Substituion details:	position:
Deletion details:	position: number of bases:
Insertion details:	position: number of bases:
RNA change:	none codon change splice site promoter activity transcript stability polyA addition unknown details:
mRNA sequence accession number:
FIRST affected nucleotide:
LAST affected nucleotide:
Original codon:
New codon:
Protein change:	missense nonsense truncating deletion in-frame deletion truncating insertion in-frame insertion complex no effect unknown
Protein sequence accession number:
Mutation position:
Formal mutation description (eg P205K):
Wild-type amino acids:
Mutated amino acids:
FIRST affected residue:
LAST affected residue:
Position of any new termination codon:
E. CONTRIBUTOR INFORMATION
Name:
Institution:
e-mail:
Address
Phone
Fax