Werner Syndrome Mutational Database

Mutation 041

Mutation description:

Molecular type: substitution

Nucleotide notation: c.3233+1G>T; r.3310_3383del74

Protein notation: p.K1103fsX1139

Location: IVS28

Allelic status: compound heterozygous

Mutation synonyms

LSMD # = Monnat Unique Number: 041

Werner syndrome Registry #: KUN9001

Huang et al. mutation #: 41

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: CS961716

Japanese mutation #: n/a

Supplementary information

Patient ethnicity data: Japanese

Patient race data: n/a

Additional Notes: n/a

References

Published descriptions/references: Oshima et al., 1996