Werner Syndrome Mutational Database

Mutation 020

Mutation description:

Molecular type: insertion

Nucleotide notation: c.2088_2089ins105

Protein notation: p.M696fsX709

Location: exon 18-19, helicase domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 020

Werner syndrome Registry #: SEP9000

Huang et al. mutation #: 20

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: registered, no number

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Sardinian

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Oshima et al., 1996