Werner Syndrome Mutational Database

Mutation 032

Mutation description:

Molecular type: substitution

Nucleotide notation: c.2884C>T

Protein notation: p.Q962X

Location: exon 24, RQC domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 032

Werner syndrome Registry #: MAYO1010

Huang et al. mutation #: 32

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Korean

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006