Werner Syndrome Mutational Database

Mutation 010

Mutation description:

Molecular type: deletion/insertion

Nucleotide notation: c.1123_1124delGAinsC

Protein notation: p.F374fsX378

Location: exon 9

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 010

Werner syndrome Registry #: PCH70010

Huang et al. mutation #: 10

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: USA

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006