Werner Syndrome Mutational Database

Mutation 013

Mutation description:

Molecular type: insertion

Nucleotide notation: c.1278_1279insATCT

Protein notation: p.S246fsX430

Location: exon 10

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 013

Werner syndrome Registry #: MIM37100

Huang et al. mutation #: 13

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0008

HGMD mutation #: CI962367

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Brazil

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Oshima et al., 1996