Werner Syndrome Mutational Database

Mutation 035

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3030_3033delAACA

Protein notation: p.D1009fsX1021

Location: exon 25, RQC domain

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 035

Werner syndrome Registry #: NEWZ1010

Huang et al. mutation #: 35

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: New Zealand

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Nakayama et al., 2002