Werner Syndrome Mutational Database

Mutation 031

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2828-1G>C; r.2826_2967del142

Protein notation: p.S941fsX975

Location: IVS23, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 031

Werner syndrome Registry #: HEIDI1010

Huang et al. mutation #: 31

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: German

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006