Werner Syndrome Mutational Database

Mutation 036

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3033_3034delAG

Protein notation: p.Q1010fsX1024

Location: exon 25, RQC domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 036

Werner syndrome Registry #: see table

Huang et al. mutation #: 36

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006