Werner Syndrome Mutational Database

Mutation 008

Mutation description:

Molecular type: deletion

Nucleotide notation: c.867_874delAGAAAATC

Protein notation: p.I288fsX301

Location: exon 9

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 008

Werner syndrome Registry #: ROMA1010

Huang et al. mutation #: 8

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Italian

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006