WRN mutation

Mutation 055


Mutation description:

Molecular type: substitution

Nucleotide notation: c.2283G>A

Protein notation: p.W761X

Location: exon 20, helicase domain

Allelic status: n/a


Mutation synonyms

LSMD # = Monnat Unique Number: 055

Werner syndrome Registry #: n/a

Huang et al. mutation #: n/a

Uhrhammer mutation #: 1465-1

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: Huang et al., 2006