6
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
ZNF687 |
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) |
SNV |
Pathogenic |
222987 |
rs148402804 |
1:151262329-151262329 |
1:151289853-151289853 |
2 |
ZNF687 |
NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile) |
SNV |
Pathogenic |
222988 |
rs869025582 |
1:151259492-151259492 |
1:151287016-151287016 |
3 |
ZNF687 |
NM_020832.3(ZNF687):c.2810C>A (p.Pro937His) |
SNV |
Uncertain significance |
801543 |
|
1:151262329-151262329 |
1:151289853-151289853 |
UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 6:
73
Cosmic variations for Paget Disease of Bone 6:
9
(show all 19)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM89672495 |
SMARCA4 |
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
2 |
COSM86627225 |
RB1 |
bone,NS,osteosarcoma,osteoblastic
|
c.1399C>T |
p.R467* |
13:48380062-48380062 |
15 |
3 |
COSM148074003 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
4 |
COSM131036045 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
5 |
COSM148686649 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
6 |
COSM151631645 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
7 |
COSM151254331 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
8 |
COSM111409195 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
9 |
COSM151575488 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
10 |
COSM138949448 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
11 |
COSM109750654 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
12 |
COSM140853916 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
13 |
COSM151530034 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
14 |
COSM151945900 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
15 |
COSM151429880 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
16 |
COSM112796684 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
17 |
COSM150583656 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
18 |
COSM106832283 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2920A>G |
p.T974A |
19:11021836-11021836 |
15 |
19 |
COSM149479313 |
|
bone,NS,osteosarcoma,osteoblastic
|
c.2728A>G |
p.T910A |
19:11021836-11021836 |
15 |
|