WRN mutation

Mutation 009


Mutation description:

Molecular type: substitution

Nucleotide notation: c.1105C>T

Protein notation: p.R369X

Location: exon 9

Allelic status: see table


Mutation synonyms

LSMD # = Monnat Unique Number: 009

Werner syndrome Registry #: see table

Huang et al. mutation #: 9

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: Huang et al., 2006

 

 

Allelic status Werner syndrome Registry # Patient ethnicity Patient race
compound heterozygous AED80300 Celtic Caucasian
homozygous AG00780 Caucasian Caucasian
homozygous AG4103 Caucasian Caucasian
homozygous AUCKL1010 Austrian Caucasian
compound heterozygous BERLI1010 German Caucasian
compound heterozygous BETHE5010 USA Caucasian
compound heterozygous CDR60010 USA Caucasian
compound heterozygous CLF05010 French Caucasian
homozygous CP2650 French Caucasian
compound heterozygous, 1 mutation CP3 French Caucasian
compound heterozygous CP87210 French Caucasian
compound heterozygous DJG German Caucasian
compound heterozygous DRES1010
German Caucasian
homozygous EKL Swiss/German Caucasian
compound heterozygous HEID1010 German Caucasian
homozygous
INU1010 USA Caucasian
homozygous KO90375 Japanese Asian
compound heterozygous KUN9001 Japanese Asian
homozygous LGS90610 USA Caucasian
compound heterozygous, 1 mutation NF French Caucasian
homozygous OW90650 Japanese Asian
homozygous OW90660 Japanese Asian
compound heterozygous PCH70010 USA Caucasian
compound heterozygous SWISS1010 Swiss Caucasian