Werner Syndrome Mutational Database

Mutation 023

Mutation description:

Molecular type: deletion

Nucleotide notation: c.2103_2104delAC

Protein notation: p.V700fsX30

Location: exon 19, helicase domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 023

Werner syndrome Registry #: see table

Huang et al. mutation #: 23

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: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Muller et al., 2005