Werner Syndrome Mutational Database

Mutation 012

Mutation description:

Molecular type: deletion

Nucleotide notation: c.1250_1253delTTGC

Protein notation: p.D416fsX436

Location: exon 9

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 012

Werner syndrome Registry #: CL11010

Huang et al. mutation #: 12

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: French

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006