Werner Syndrome Mutational Database

Mutation 053

Mutation description:

Molecular type: deletion insertion substition

Nucleotide notation:

Protein notation:

Location: exon 11, helicase domain

Allelic status: compound heterozygous homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 053

Werner syndrome Registry #: n/a

Huang et al. mutation #: n/a

Uhrhammer mutation #: 943-1

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: HUhrhammer et al., 20066