WRN mutation

Mutation 002


Mutation description:

Molecular type: deletion

Nucleotide notation: c.356_366del11

Protein notation: p.S118fsX125

Location: exon 5, exonuclease domain

Allelic status: compound heterozygous


Mutation synonyms

LSMD # = Monnat Unique Number: 002

Werner syndrome Registry #: ABCDE10010

Huang et al. mutation #: n/a

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: [ ]