Werner Syndrome Mutational Database

Mutation 058

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3319G>T

Protein notation: p.E1107X

Location: n/a

Allelic status: homozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 058

Werner syndrome Registry #: SPAIN1010

Huang et al. mutation #: n/a

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: n/a

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Oshima, personal communication