Hum Mutat. 2000;15(1):7-12.

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Source

MGC-Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. J.T.den_Dunnen@lumc.nl [corrected]

Erratum in

Hum Mutat 2002 Nov;20(5):403.

Abstract

Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations.

PMID:: 10612815; [PubMed - indexed for MEDLINE]

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Supplemental Content

Save items

Related citations in PubMed

Nomenclature for the description of human sequence variations. [Hum Genet. 2001]
Nomenclature for the description of human sequence variations.
den Dunnen JT, Antonarakis SE. Hum Genet. 2001 Jul; 109(1):121-4.
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. [Hum Mutat. 2001]
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Hum Mutat. 2001 May; 17(5):374-81.
[Guidelines for human gene nomenclature]. [Ann Biol Clin (Paris). 2002]
[Guidelines for human gene nomenclature].
Wojcik F. Ann Biol Clin (Paris). 2002 May-Jun; 60(3):347-50.
Review PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. [Hum Mutat. 2005]
Review PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI, Maxwell MA, Paton BC. Hum Mutat. 2005 Sep; 26(3):167-75.
Review Mutation nomenclature. [Curr Protoc Hum Genet. 2003]
Review Mutation nomenclature.
den Dunnen JT, Antonarakis SE. Curr Protoc Hum Genet. 2003 Aug; Chapter 7:Unit 7.13.

See reviews... See all...

Cited by over 100 PubMed Central articles

Improved use of a public good selects for the evolution of undifferentiated multicellularity. [Elife. 2013]
Improved use of a public good selects for the evolution of undifferentiated multicellularity.
Koschwanez JH, Foster KR, Murray AW. Elife. 2013; 2:e00367. Epub 2013 Apr 2.
The Biotinidase Gene Variants Registry: A Paradigm Public Database. [G3 (Bethesda). 2013]
The Biotinidase Gene Variants Registry: A Paradigm Public Database.
Procter M, Wolf B, Crockett DK, Mao R. G3 (Bethesda). 2013 Mar 11; . Epub 2013 Mar 11.
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. [BMC Med Genet. 2013]
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, Zhan YX, Yu CS, Chen F, Li J, et al. BMC Med Genet. 2013 Mar 1; 14:29. Epub 2013 Mar 1.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
ClinVar
Clinical variations associated with publication
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Mutation nomenclature extensions and suggestions to describe complex mutations: ...
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
Hum Mutat. 2000 ;15(1):7-12.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: