Werner Syndrome Mutational Database

Mutation 030

Mutation description:

Molecular type: deletion

Nucleotide notation: c.2773delG

Protein notation: p.K924fsX973

Location: exon 23, RQC domain

Allelic status: compound heterozygous, 1 mutation

Mutation synonyms

LSMD # = Monnat Unique Number: 030

Werner syndrome Registry #: WV

Huang et al. mutation #: 30

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: unknown

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Bennett et al, 1999