Werner Syndrome Mutational Database

Mutation 001

Mutation description:

Molecular type: substitution

Nucleotide notation: c.171C>G

Protein notation: p.Y57X

Location: exon 3

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 001

Werner syndrome Registry #: MUNCH1010

Huang et al. mutation #: 1

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: German

Patient race data: Caucasian

Additional Notes: n/a

References

Published descriptions/references: Huang et al., 2006