ClinVar genetic disease variations for Li-Fraumeni Syndrome:
5
(show top 50)
(show all 1758)
UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome:
73
(show top 50)
(show all 83)
Cosmic variations for Li-Fraumeni Syndrome:
8
(show top 50)
(show all 2190)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM138972819 |
NOTCH2 |
soft tissue,breast,sarcoma,NS
|
c.1028A>G |
p.N343S |
1:119968196-119968196 |
20 |
2 |
COSM88406309 |
NOTCH2 |
soft tissue,breast,sarcoma,NS
|
c.1145A>G |
p.N382S |
1:119968196-119968196 |
20 |
3 |
COSM95516578 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
15 |
4 |
COSM95520543 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
15 |
5 |
COSM95523461 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
15 |
6 |
COSM95526780 |
H3-3A |
soft tissue,bone,sarcoma,NS
|
c.103G>T |
p.G35W |
1:226064454-226064454 |
15 |
7 |
COSM87494413 |
GNAQ |
soft tissue,bone,sarcoma,NS
|
c.442C>T |
p.R148* |
9:77815650-77815650 |
15 |
8 |
COSM128908220 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.5438A>G |
p.E1813G |
14:95091292-95091292 |
12 |
9 |
COSM92462437 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.5438A>G |
p.E1813G |
14:95091292-95091292 |
12 |
10 |
COSM134823886 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.2132A>G |
p.E711G |
14:95091292-95091292 |
12 |
11 |
COSM131473358 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.5365-196G>A |
p.? |
14:95091305-95091305 |
12 |
12 |
COSM131473389 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.5365-183A>G |
p.? |
14:95091292-95091292 |
12 |
13 |
COSM127764521 |
DICER1 |
soft tissue,kidney,sarcoma,NS
|
c.5438A>G |
p.E1813G |
14:95091292-95091292 |
12 |
14 |
COSM88263437 |
ZRSR2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.347G>T |
p.R116M |
23:15804145-15804145 |
7 |
15 |
COSM145027950 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1135A>C |
p.I379L |
11:102229710-102229710 |
7 |
16 |
COSM133274141 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1249A>C |
p.I417L |
11:102229710-102229710 |
7 |
17 |
COSM127997659 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1237A>C |
p.I413L |
11:102229710-102229710 |
7 |
18 |
COSM128451947 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1123A>C |
p.I375L |
11:102229710-102229710 |
7 |
19 |
COSM90948185 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1183A>C |
p.I395L |
11:102229710-102229710 |
7 |
20 |
COSM143041436 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1297A>C |
p.I433L |
11:102229710-102229710 |
7 |
21 |
COSM126972975 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.751A>C |
p.I251L |
11:102229710-102229710 |
7 |
22 |
COSM85237368 |
YAP1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.1285A>C |
p.I429L |
11:102229710-102229710 |
7 |
23 |
COSM104886424 |
XPO1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.775A>G |
p.M259V |
2:61496992-61496992 |
7 |
24 |
COSM101979959 |
XPO1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.775A>G |
p.M259V |
2:61496992-61496992 |
7 |
25 |
COSM104239738 |
XPO1 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.775A>G |
p.M259V |
2:61496992-61496992 |
7 |
26 |
COSM150325143 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4431G>T |
p.K1477N |
16:2085292-2085292 |
7 |
27 |
COSM151376969 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4626G>T |
p.K1542N |
16:2085292-2085292 |
7 |
28 |
COSM147707709 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4503G>T |
p.K1501N |
16:2085292-2085292 |
7 |
29 |
COSM87041630 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4632G>T |
p.K1544N |
16:2085292-2085292 |
7 |
30 |
COSM149815549 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4500G>T |
p.K1500N |
16:2085292-2085292 |
7 |
31 |
COSM110115210 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4323G>T |
p.K1441N |
16:2085292-2085292 |
7 |
32 |
COSM148992474 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4434G>T |
p.K1478N |
16:2085292-2085292 |
7 |
33 |
COSM101192446 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4287G>T |
p.K1429N |
16:2085292-2085292 |
7 |
34 |
COSM150366200 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4428G>T |
p.K1476N |
16:2085292-2085292 |
7 |
35 |
COSM90416270 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4563G>T |
p.K1521N |
16:2085292-2085292 |
7 |
36 |
COSM151518516 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4557G>T |
p.K1519N |
16:2085292-2085292 |
7 |
37 |
COSM151753572 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4503G>T |
p.K1501N |
16:2085292-2085292 |
7 |
38 |
COSM102630716 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4431G>T |
p.K1477N |
16:2085292-2085292 |
7 |
39 |
COSM136629420 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4464G>T |
p.K1488N |
16:2085292-2085292 |
7 |
40 |
COSM150584387 |
TSC2 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.4425G>T |
p.K1475N |
16:2085292-2085292 |
7 |
41 |
COSM93201361 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.644G>C |
p.S215T |
17:7674887-7674887 |
7 |
42 |
COSM93183630 |
TP53 |
soft tissue,striated muscle,rhabdomyosarcoma,NS
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
7 |
43 |
COSM106065628 |
TP53 |
soft tissue,striated muscle,rhabdomyosarcoma,NS
|
c.394A>G |
p.K132E |
17:7675218-7675218 |
7 |
44 |
COSM143944164 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.340C>T |
p.R114C |
17:7673803-7673803 |
7 |
45 |
COSM112255322 |
TP53 |
soft tissue,striated muscle,rhabdomyosarcoma,NS
|
c.637C>T |
p.R213* |
17:7674894-7674894 |
7 |
46 |
COSM122271658 |
TP53 |
soft tissue,striated muscle,rhabdomyosarcoma,NS
|
c.337G>T |
p.G113C |
17:7674230-7674230 |
7 |
47 |
COSM121875983 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.347G>A |
p.R116Q |
17:7674220-7674220 |
7 |
48 |
COSM143370668 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.584A>G |
p.Y195C |
17:7674262-7674262 |
7 |
49 |
COSM87907551 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.581T>G |
p.L194R |
17:7674950-7674950 |
7 |
50 |
COSM143943565 |
TP53 |
adrenal gland,adrenal gland,adrenal cortical carcinoma,NS
|
c.47G>A |
p.R16H |
17:7675088-7675088 |
7 |
Copy number variations for Li-Fraumeni Syndrome from CNVD:
6
# |
CNVD ID |
Chromosome |
Start |
End |
Type |
Gene Symbol |
CNVD Disease |
1 |
116393 |
17 |
6500000 |
10700000 |
Copy number |
TP53
|
Li-fraumeni syndrome |
2 |
117991 |
17 |
7505821 |
7531588 |
Deletion |
TP53
|
Li-fraumeni syndrome |
3 |
118109 |
17 |
7571720 |
7590863 |
Copy number |
TP53
|
Li-fraumeni syndrome |
4 |
162983 |
22 |
23500000 |
25900000 |
Copy number |
|
Li-fraumeni syndrome |
|