Werner Syndrome Mutational Database

Mutation 043

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3460-7T>A

Protein notation: p.Q1153fsX1163

Location: IVS29

Allelic status: compound heterozygous homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 043

Werner syndrome Registry #: n/a

Huang et al. mutation #: n/a

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CS979131

Japanese mutation #: 8

Supplementary information

Patient ethnicity data: Japanese

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Matsumoto et al., 1997