WRN mutation

Mutation 025


Mutation description:

Molecular type: deletion insertion substition

Nucleotide notation:

Protein notation:

Location: exon 19, helicase domain

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 025

Werner syndrome Registry #: see table

Huang et al. mutation #: 25

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a


Supplementary information

Patient ethnicity data: n/a

Patient race data: see table

Additional Notes: n/a


References

Published descriptions/references: Huang et al., 2006

 

Allelic status Werner syndrome Registry # Patient ethnicity Patient race
homozygous AMIE15010 French Caucasian
homozygous GERMA1010 Italian ND
homozygous SIENA1010 Italian Caucasian
homozygous SIENA1020 Italian Caucasian