Werner Syndrome Mutational Database

Mutation 042

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3446delA

Protein notation: p.Q1148fsX1161

Location: exon 29

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 042

Werner syndrome Registry #: IB90550

Huang et al. mutation #: n/a

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CD962190

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Japanese

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Oshima et al., 1996; Matsumoto et al., 1997