Werner Syndrome Mutational Database

Mutation 024

Mutation description:

Molecular type: insertion

Nucleotide notation: c.2179dupT

Protein notation: p.T726fsX731

Location: exon 19, helicase domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 024

Werner syndrome Registry #: MOROCCO1010

Huang et al. mutation #: 24

Uhrhammer mutation #: n/a

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: Huang et al., 2006