Werner Syndrome Mutational Database

Mutation 027

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2448+1G>T; r.2274_2448del

Protein notation: p.T757fsX760

Location: IVS20, helicase domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 027

Werner syndrome Registry #: see table

Huang et al. mutation #: 27

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CS971930

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a

References

Published descriptions/references: Yu et al., 1997