Werner Syndrome Mutational Database

Mutation 050

Mutation description:

Molecular type: insertion

Nucleotide notation: c.3915dupA

Protein notation: p.R1305fsX1318

Location: exon 33

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 050

Werner syndrome Registry #: n/a

Huang et al. mutation #: 50

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0005

HGMD mutation #: CI972726

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Japanese

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Goto et al., 1997