Non-pathogenic rare variants: MECP2
| ID |
Nucleotide Change |
AA Change |
Number of unrelated samples |
Samples |
Reference |
| 2 |
582C>T |
S194S |
4 |
536, 662, 685, 961 |
Amir 2000 |
| 1 |
602C>T |
A201V |
4 |
398, 695, 884, 890 |
Amano 2000 |
| 9 |
819G>T |
G273G |
2 |
230, 976 |
|
| 3 |
1168_1173del6 |
|
2 |
346, 852 |
Buyse 2000 |
| 4 |
378 - 19delT |
|
2 |
762, 802 |
Trappe 2001 |
| 5 |
1197C>T |
P399P |
1 |
152 |
Cheadle 2000 |
| 6 |
1202G>A |
S401N |
1 |
196 |
Zappella et al, 2003 |
| 8 |
720C>G |
T240T |
1 |
184 |
Zappella et al, 2003 |
| 16 |
605C>T |
A202V |
1 |
909 |
Personal data |
| 10 |
897C>T |
T299T |
1 |
494 |
Cheadle 2000 |
| 11 |
1256C>T |
P419L |
1 |
617 |
Personal data |
| 12 |
1069C>T |
S359S |
1 |
249 |
Personal data |
| 13 |
843C>T |
A281A |
1 |
669 |
Buyse 2000 |
| 14 |
1133C>G |
A378G |
1 |
822 |
Personal data |
| 15 |
1261G>C |
G421R |
1 |
856 |
Personal data |
| 7 |
1330G>A |
A444T |
1 |
236 |
Buyse 2000 |
|
|
|
