Werner Syndrome Mutational Database

Mutation 005

Mutation description:

Molecular type: deletion/insertion

Nucleotide notation: c.487_489delGATinsC

Protein notation: p.T162fsX166

Location: exon 5, exonuclease domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 005

Werner syndrome Registry #: JV90700

Huang et al. mutation #: 5

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