WRN mutation

Mutation 027


Mutation description:

Molecular type: substitution

Nucleotide notation: c.2448+1G>T; r.2274_2448del

Protein notation: p.T757fsX760

Location: IVS20, helicase domain

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 027

Werner syndrome Registry #: see table

Huang et al. mutation #: 27

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CS971930

Japanese mutation #: n/a


Supplementary information

Patient ethnicity data: see table

Patient race data: see table

Additional Notes: n/a


References

Published descriptions/references: Yu et al., 1997

 

Allelic status Werner syndrome Registry # Patient ethnicity Patient race
homozygous MSA90025 Italian ND
homozygous WKH Japanese ND