Werner Syndrome Mutational Database

Mutation 051

Mutation description:

Molecular type: deletion

Nucleotide notation: c.356-2A>C

Protein notation: exon 5 skip

Location: exon 5, exonuclease domain

Allelic status: n/a

Mutation synonyms

LSMD # = Monnat Unique Number: 051

Werner syndrome Registry #: n/a

Huang et al. mutation #: 1387-1

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: Uhrhammer et al., 2006