rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).
|
17541742 |
2008 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs587778720
|
|
LI-FRAUMENI SYNDROME 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs587778720
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
|
19468865 |
2009 |
rs587778720
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
|
19468865 |
2009 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
|
20522432 |
2010 |
rs587778720
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
|
20522432 |
2010 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
rs587778720
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The impact of R213 mutation on p53-mediated p21 activity.
|
24384472 |
2014 |
rs587778720
|
|
LI-FRAUMENI SYNDROME 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.
|
21626334 |
2011 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Number of rare germline CNVs and TP53 mutation types.
|
23259501 |
2012 |
rs587778720
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation.
|
16736287 |
2006 |
rs587778720
|
|
Liver carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Adrenocortical carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Cutaneous Melanoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Transitional cell carcinoma of bladder
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Adenocarcinoma of prostate
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Liver carcinoma
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Squamous cell carcinoma of lung
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Adenocarcinoma of pancreas
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Squamous cell carcinoma of lung
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs587778720
|
|
Adenocarcinoma of prostate
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |