Werner Syndrome Mutational Database

Mutation 022

Mutation description:

Molecular type: deletion

Nucleotide notation: c.2102_2103delCA

Protein notation: p.V700fsX30

Location: exon 19, helicase domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 022

Werner syndrome Registry #: n/a

Huang et al. mutation #: 22

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: French

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006