WRN mutation

Mutation 075


Mutation description:

Molecular type: nonsynonymous SNP

Nucleotide notation: c.2131C>T

Protein notation: p.R711W

Location: exon 19, helicase domain

Allelic status: n/a


Mutation synonyms

LSMD # = Monnat Unique Number: 075

Werner syndrome Registry #: n/a

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: SNP database