WRN mutation

Mutation 048


Mutation description:

Molecular type: deletion

Nucleotide notation: c.3688_3691delACAG

Protein notation: p.Q1229fsX1246

Location: IVS31/32

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 048

Werner syndrome Registry #: see table

Huang et al. mutation #: 48

Uhrhammer mutation #: n/a

OMIM mutant allele #: n/a

HGMD mutation #: n/a

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

 

Allelic status Werner syndrome Registry # Patient ethnicity Patient race
compound heterozygous CL3 French n/a
homozygous SYR10006 Syrian n/a
homozygous SYR10007 Syrian n/a
homozygous SYR10008 Syrian n/a
homozygous SYR10011 Syrian n/a