Werner Syndrome Mutational Database

Mutation 037

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3034_3035delGA

Protein notation: p.T1011fsX1024

Location: exon 25, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 037

Werner syndrome Registry #: CWW91001

Huang et al. mutation #:37

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: USA

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Moser et al., 2000