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Name

Germline Mutations data set (Rel. 14)

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Status The current release has 2333 entries and was indexed 17-Feb-2016.
Description

This is the Germline Mutations data set of the IARC TP53 Mutation Database (Rel. 12)

The dataset of germline mutations is a module of the IARC TP53 Database. It contains information on families fulfilling the definition of Li-Fraumeni and Li-Fraumeni-related syndromes and on individuals carrying a germline mutation in the TP53 gene. Data are extracted from peer-reviewed articles. Unpublished data from Eeles et al are also included. Criteria for inclusion are the following: a) individuals carrying a sequenced TP53 germline mutation, affected or not by a cancer, b) individuals affected by a cancer and belonging to a family defined as LFS or LFL, presenting or not a germline mutation (TP53 or other).

WWW http://www-p53.iarc.fr/index.html
Contact
International Agency for Research on Cancer (IARC) TP53 database,
IARC,
150 Cours Albert Thomas,,
69372 Lyon CEDEX 08, France.

Phone: +33 (0)4 72 73 84 85
Fax : +33 (0)4 72 73 85 75

Data-fields in SRS
Field Name
Short Name
Type
No. of Keys
No. of Entry References
Indexing Date
Status
Unique ID for the Germline mutations data set uni id 2333 2333 17-Feb-2016 ok
Unique family ID within this db fai index 531 2333 17-Feb-2016 ok
Family name code given in the original publication fac index 532 2356 17-Feb-2016 ok
Country in which the patient was living cnt index 37 2333 17-Feb-2016 ok
Family classification clas index 7 2333 17-Feb-2016 ok
Number of generations analyzed in the family gea num 5 2197 17-Feb-2016 ok
Presence of a germline mutation in TP53 glm index 5 2333 17-Feb-2016 ok
Exon which contains the mutation exo index 10 2116 17-Feb-2016 ok
Intron which contains the mutation itr index 10 191 17-Feb-2016 ok
Genomic nucleotide position of mutation nug num 202 2333 17-Feb-2016 ok
Type/nature of mutation typ index 10 2333 17-Feb-2016 ok
Codon where the mutation is located cno num 139 2333 17-Feb-2016 ok
Description and relevant information of mutation des index 39 2333 17-Feb-2016 ok
Mutation description with the coding sequence as reference cde index 242 2333 17-Feb-2016 ok
Base sequence of Wild Type codon wtc index 56 2333 17-Feb-2016 ok
Base sequence of Mutant codon muc index 56 2333 17-Feb-2016 ok
Wild Type Aminoacids wta index 22 2333 17-Feb-2016 ok
Mutated Aminoacids mua index 22 2333 17-Feb-2016 ok
Effect of the mutation before the encoding eff index 8 2333 17-Feb-2016 ok
Patient ID within this data set ind index 1778 2262 17-Feb-2016 ok
Individual name code given in the original publication inc index 1779 2333 17-Feb-2016 ok
Family case in the pedigree fas index 46 2360 17-Feb-2016 ok
Position of the individual in the family tree ger num 5 2098 17-Feb-2016 ok
Sex of the patient sex index 4 2333 17-Feb-2016 ok
TP53 mutation status of the individual gec index 6 2333 17-Feb-2016 ok
Parent from which the mutation has been inherited moi index 6 2333 17-Feb-2016 ok
Living status of the individual at time of follow-up dea index 3 2333 17-Feb-2016 ok
Disease status of the individual at time of follow-up unc index 3 2333 17-Feb-2016 ok
Age of the patient at the time of the follow-up age num 85 657 17-Feb-2016 ok
Site of the tumor defined by organ top index 57 2333 17-Feb-2016 ok
Morphology and/or histologic type of tumor mor index 131 2333 17-Feb-2016 ok
Age of the individual at the time of tumor diagnosis aod num 88 1826 17-Feb-2016 ok
Bibliographic reference ID for this data set gri index 196 2333 17-Feb-2016 ok
Gene variation unique id, linked to Gene variations dataset gev index 243 2333 17-Feb-2016 ok
Mutation ID pmi index 535 2333 17-Feb-2016 ok
AllText all group 0 0   not indexed
Loaders
Links
From Databank
Entries Linked
To Databank
Entries Linked
Links Total
Indexing Date
TP53_GERMLINE 2333 TP53_GERMLINE_REF 196 2333 17-Feb-2016
TP53_GERMLINE 2278 TP53_MUTATIONS 235 2278 17-Feb-2016
SRS Description Structure ( srsgen.i , srsdb.i , href.i )
Syntax
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