rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
0.720
GeneticVariation
BEFREE
A PTEN mutation, c.1003C>T p.(Arg335Ter) , was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease ), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
25756585
2015
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
A PTEN mutation, c.1003C>T p.(Arg335Ter) , was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease ), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
25756585
2015
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
23475934
2013
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
21956414
2011
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
10749983
2000
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
10468583
1999
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
0.720
GeneticVariation
BEFREE
While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease .
10232405
1999
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
10353779
1999
rs121909231
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.720
CausalMutation
CLINVAR
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
9399897
1997
rs1085308041
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
C
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1085308043
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
G
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1114167621
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
A
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1114167622
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
C
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1114167650
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
A
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs121913293
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
28475857
2017
rs138336847
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
C
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1554897854
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1554897889
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1554897889
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
A
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1554898242
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1554900675
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs398123318
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs587776667
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
A
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs587776667
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs587781784
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
G
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017