|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
|
19260062 |
2009 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
|
26775776 |
2016 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.
|
8595405 |
1995 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
|
17397031 |
2007 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutation of ARF in a melanoma kindred.
|
12019208 |
2002 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
|
14646619 |
2003 |
|
rs104894094
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation.
|
10951521 |
2000 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.
|
9425228 |
1998 |
|
rs104894094
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
|
19260062 |
2009 |
|
rs104894094
|
|
MELANOMA-PANCREATIC CANCER SYNDROME
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
|
10869234 |
2000 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.
|
21150883 |
2011 |
|
rs104894094
|
|
Hereditary Melanoma
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
|
10869234 |
2000 |
|
rs104894094
|
|
Hereditary Melanoma
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Classifying variants of CDKN2A using computational and laboratory studies.
|
21462282 |
2011 |
|
rs104894094
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).
|
10956390 |
2000 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.
|
15937071 |
2006 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent p14 mutations in Italian familial melanoma.
|
20132244 |
2010 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
|
16234564 |
2005 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.
|
18981015 |
2008 |
|
rs104894094
|
|
Hereditary Melanoma
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
|
21801156 |
2011 |
|
rs104894094
|
|
Movement Disorders
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
|
12072543 |
2002 |
|
rs104894094
|
|
Hereditary Melanoma
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
|
20340136 |
2010 |
|
rs104894094
|
|
Hereditary Melanoma
|
A |
0.700 |
CausalMutation
|
CLINVAR |
INK4/ARF germline alterations in pancreatic cancer patients.
|
14679123 |
2004 |