Werner Syndrome Mutational Database

Mutation 040

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3233+1G>C; r.3139_3233del95

Protein notation: p.K1046fs1060

Location: IVS26

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 040

Werner syndrome Registry #: see table

Huang et al. mutation #: 40

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a

References

Published descriptions/references: Moser et al., 2000