Werner Syndrome Mutational Database

Mutation 046

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3572+2T>A; r.3460_3572del113

Protein notation: p.Q1153fsX1158

Location: IVS30, HRDC domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 046

Werner syndrome Registry #: see table

Huang et al. mutation #: 46

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0007

HGMD mutation #: CS961717

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a

References

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