International Society for Gastrointestinal Hereditary Tumours

QuickMenu Save Document

Warning! QuickMenu may have been blocked by IE-SP2's active content option. This browser feature blocks JavaScript from running locally on your computer.

This warning will not display once the menu is on-line. To enable the menu locally, click the yellow bar above, and select "Allow Blocked Content".

To permanently enable active content locally...

1: Select 'Tools' --> 'Internet Options' from the IE menu.
2: Click the 'Advanced' tab.
3: Check the 2nd option under 'Security' in the tree (Allow active content to run in files on my computer.)

Mutation Submission Form

Name investigator
E-mail
Family ID
Country of origin
Family satisfies Amsterdam criteria?	yes	No
Gene	MLH1	MSH2
	MSH6	PMS1
	PMS2	other, describe
Exon/splice site/regulatory:
Codon nr*:
Nucleotide change**:
Effect mutation:	nonsense	missense
	frameshift	other, describe
pathogenic?		polymorphic
Screening procedure:	SSCP	DGGE	PTT/IVSP
	sequencing	functional assays
Please give the reference if this mutation was published by your group:

* for codon numbering, the initiating Methionine codon(ATG) = codon 1
** for nucleotide numbering, the first nucleotide (A) of the initiation codon = nucleotide 1

Back to InSiGHT mutation database