Werner Syndrome Mutational Database

Mutation 044

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3460-2A>G

Protein notation: p.Q1153fsX1158

Location: IVS29, HRDC domain

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 044

Werner syndrome Registry #: HUMB1010

Huang et al. mutation #: 44

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Turkish

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006