Werner Syndrome Mutational Database

Mutation 015

Mutation description:

Molecular type: substitution

Nucleotide notation: c.1462G>T

Protein notation: p.E488X

Location: exon 12

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 015

Werner syndrome Registry #: HE90750

Huang et al. mutation #: 15

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: French

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006