WRN mutation

Mutation 039


Mutation description:

Molecular type: substitution

Nucleotide notation: c.3139-1G>C; r.3139_3233del95

Protein notation: p.K1046fs1060

Location: IVS25

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 039

Werner syndrome Registry #: see table

Huang et al. mutation #: 39

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0004

HGMD mutation #: CS961715

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., 1996; Oshima et al., 1996; Yu et al., 1997; Matsumoto et al., 1997

 

Allelic status Werner syndrome Registry # Patient ethnicity Patient race
homozygous AOMOR1010 Japanese Asian
homozygous FJ Japanese Asian
homozygous FUW Japanese Asian
homozygous HA Japanese Asian
homozygous HW90600 Japanese Asian
homozygous HW90605 Japanese Asian
homozygous IU Japanese Asian
homozygous JO1
 Japanese Asian
homozygous JO2 Japanese Asian
homozygous KAKU Japanese Asian
homozygous KY Japanese Asian
homozygous MCI7326 Japanese Asian
homozygous MCI7882 Japanese Asian
homozygous MIE2 Japanese Asian
homozygous MIKIT1010 Japanese Asian
homozygous SK
 Japanese Asian
homozygous ST Japanese Asian
homozygous TH Japanese Asian
homozygous TK Japanese Asian
homozygous TO Japanese Asian
homozygous ZM90625 Japanese Asian
homozygous ZM90630 Japanese Asian