Werner Syndrome Mutational Database

Mutation 045

Mutation description:

Molecular type: deletion insertion substitution

Nucleotide notation: c.3493C>T

Protein notation: p.Q1165X

Location: exon 30, HRDC domain

Allelic status: see table

Mutation synonyms

LSMD # = Monnat Unique Number: 045

Werner syndrome Registry #: see table

Huang et al. mutation #: 45

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0002

HGMD mutation #: CM196465

Japanese mutation #: 2

Supplementary information

Patient ethnicity data: n/a

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006