Werner Syndrome Mutational Database

Mutation 007

Mutation description:

Molecular type: substitution

Nucleotide notation: c.655-1G>A, resulting in r.655_724del70

Protein notation: p.Y218fsX227

Location: exon 7, exonuclease domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 007

Werner syndrome Registry #: CP70530

Huang et al. mutation #: 7

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: French

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006