Werner Syndrome Mutational Database

Mutation 038

Mutation description:

Molecular type: insertion

Nucleotide notation: c.3130dupA

Protein notation: p.L1043fs1048

Location: exon 25, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 038

Werner syndrome Registry #: BETHE5010

Huang et al. mutation #: 38

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Puerto Rican

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006