Werner Syndrome Mutational Database

Mutation 019

Mutation description:

Molecular type: deletion

Protein notation: c.1799_1800delCT

Location: exon 15, helicase domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 019

Werner syndrome Registry #: CDR600010

Huang et al. mutation #: 19

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: Huang et al., 2006