Werner Syndrome Mutational Database

Mutation 017

Mutation description:

Molecular type: deletion

Nucleotide notation: c.1486_1489delAAAA

Protein notation: p.L495fsX555

Location: exon 14, helicase domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 017

Werner syndrome Registry #: WURZB8010

Huang et al. mutation #: 17

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: German

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006