Werner Syndrome Mutational Database

Mutation 057

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3496A>T

Protein notation: p.K1166X

Location: exon 30, HRDC domain

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 057

Werner syndrome Registry #: n/a

Huang et al. mutation #: n/a

Uhrhammer mutation #: 1052-1

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: n/a

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Uhrhammer et al., 2006