Werner Syndrome Mutational Database

Mutation 016

Mutation description:

Molecular type: substitution

Nucleotide notation: c.1486A>T

Protein notation: p.K496X

Location: exon 12

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 016

Werner syndrome Registry #: BERLI1010

Huang et al. mutation #: 16

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: n/a

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006