WRN mutation

Mutation 049


Mutation description:

Molecular type: substitution

Nucleotide notation: c.3913C>T

Protein notation: p.R1305X

Location: exon 33

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 049

Werner syndrome Registry #: see table

Huang et al. mutation #: 49

Uhrhammer mutation #: n/a

OMIM mutant allele #: 277700.0001

HGMD mutation #: CM961466

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
homozygous GAR90675 Mexican Caucasian
homozygous HH80350 Japanese n/a
homozygous HM90075 Japanese n/a
homozygous MH90925 Japanese n/a
homozygous NN90150 Japanese n/a