Werner Syndrome Mutational Database

Mutation 054

Mutation description:

Molecular type: deletion

Nucleotide notation: c.2003delAT

Protein notation: p.D668fsX674

Location: exon 18, helicase domain

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 054

Werner syndrome Registry #: n/a

Huang et al. mutation #: n/a

Uhrhammer mutation #: 1182-1

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: n/a

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Uhrhammer et al., 2006