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Germline Mutations data set (Rel. 14)

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

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 Unpublished data from Eeles et al are also included.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
International Agency for Research on Cancer (IARC) TP53 database,
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
No. of Keys
No. of Entry References
Indexing Date
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
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 )
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