Werner Syndrome Mutational Database

Mutation 034

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3028_3031delCAAA

Protein notation: p.D1009fsX1021

Location: exon 25, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 034

Werner syndrome Registry #: CWW91001

Huang et al. mutation #: 34

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