Werner Syndrome Mutational Database

Mutation 047

Mutation description:

Molecular type: deletion

Nucleotide notation: c.3587delA

Protein notation: p.V1195fsX1198

Location: exon 31, HRDC domain

Allelic status: compound heterozygous, 1 mutation

Mutation synonyms

LSMD # = Monnat Unique Number: 047

Werner syndrome Registry #: UTRE1010

Huang et al. mutation #: 47

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Dutch

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006