Human Genetics Laboratory
Wolfram Syndrome - Small Deletions
| ID | Location | Description | Consequence | Reference |
|---|---|---|---|---|
| 10 | E-5 | c.532_537del6 | K178_A179del | 28 |
| 13076 | E-5 | c.599delT | L200fs286X | 2 |
| 13070 | E-5 | c.599delT | L200fs286X | 2 |
| WS10 | E-6 | c.639_642delGGCG | A214fsX285 | 53 |
| Family 9 | E-8 | c.862-1357del1254 | delexon8 | 38 |
| WS5 | E-8 | c.877delC | L293fsX303 | 53 |
| Family WS5 | E-8 | c.1046_1048delTCT | F350del | 12 |
| E-8 | c.1052-1055delACCT | Y351fsX356 | 55 | |
| 5514 | E-8 | c.1060_1062delTTC | F354del | 3 |
| Family WS17 | E-8 | c.1060_1062delTTC | F354del | 12 |
| WS8 | E-8 | c.1060_1062delTTC | F345del | 53 |
| Family 2 | E-8 | c.1230_1233delCTCT | V412fsX440 | 10a |
| Family 3 | E-8 | c.1230_1233delCTCT | V412fsX440 | 10a |
| 15 | E-8 | c.1230_1233delCTCT | V412fsX440 | 28 |
| WF4 | E-8 | c.1230_1233delCTCT | V412fsX440 | 27 |
| Family WS16 | E-8 | c.1230_1233delCTCT | V412fsX440 | 40 |
| MORL12 | E-8 | c.1230_1233delCTCT | V412fsX440 | 47 |
| Family WS7 | E-8 | c.1232_1233delCT | S411fsX541 | 40 |
| E-8 | c.1240_1242delTTC | F414del | 33 | |
| Family WS6 | E-8 | c.1240_1242delTTC | F414del | 40 |
| Family S | E-8 | c.1243_1245delGTC | V415del | 3 |
| Family 1 | E-8 | c.1243_1245delGTC | V415del | 38 |
| Family 15 | E-8 | c.1243_1245delGTC | V415del | 40 |
| EE35 | E-8 | c.1243_1245delGTC | V415del | 41 |
| Family 81 | E-8 | c.1243_1245delGTC | V415del | 29 |
| E-8 | F417del | 46 | ||
| Family 1 | E-8 | c.1362_1377del16 | Y454X | 10b |
| Family 5 | E-8 | c.1362_1377del16 | Y454X | 10b |
| 4 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 5 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 6 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 7 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 8 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 9 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 11 | E-8 | c.1362_1377del16 | Y454X | 28 |
| 14 | E-8 | c.1362_1377del16 | Y454X | 28 |
| E-8 | c.1362_1377del16 | Y454_L459del_fsX454 | 43 | |
| 5516 | E-8 | c.1380_1388del9 | V461_V463del | 2 |
| Family WS14 | E-8 | c.1401_1403delGCT | L468del | 40 |
| WS4 | E-8 | c.1507_1529del13nt | V503fsX517 | 53 |
| 15 | E-8 | c.1546_1548delTTC | F516del | 28 |
| WF3 | E-8 | c.1522_1536del15 | Y508_L512del | 27 |
| WF4 | E-8 | c.1522_1536del15 | Y508_L512del | 27 |
| E-8 | c.1522_1523delTA | Y508fsX421 | 50 | |
| 13781 | E-8 | c.1523_1524delAT | Y508fsX541 | 2 |
| 3 | E-8 | c.1523_1524delAT | Y508fsX541 | 28 |
| WF6 | E-8 | c.1525_1537del13 | Y509fsX517 | 27 |
| Family D | E-8 | c.1549delC | R517fsX521 | 3 |
| Family W | E-8 | c.1549delC | R517fsX521 | 3 |
| E-8 | c.1611_1624del14 | del538_542fsX537 | 3 | |
| 18 | E-8 | c.1620_1622delGTG | W540del | 28 |
| Family WS2 | E-8 | c.1620_1622delGTG | W540del | 40 |
| Family WS9 | E-9 | c.1661_1687del27 | L554_G562del | 40 |
| Family WS3 | E-8 | c.1698_1703del6 | L567_F568del | 40 |
| Family E | E-8 | c.1699_1704delCTCTTT | L567_F568del | 3 |
| Family 17 | E-8 | c.1775_1776delTG | L592fsX604 | 40 |
| Ws23 | E-8 | c.1949_1950delAT | Y650fsX710 | 37 |
| 4 | E-8 | c.2262_2263delCT | C755fsX757 | 9 |
| Family I | E-8 | c.2433delA | S812fs861X | 3 |
| Family 2 | E-8 | c.2638_2643delGACTTC | D880_F881del | 20 |
| Family WS-1 | E-8 | c.2642_2643delTC | F883fsX938 | 1 |
| Family 5 | E-8 | c.2642_2643delTC | F883fsX938 | 38 |
| ER76 | E-8 | c.2646_2649delTTTC | F993fsX950 | 41 |
| Family T | E-8 | c.2648_2651delTCTT | F883fsX950 | 3 |
| Family W | E-8 | c.2648_2651delTCTT | F883fsX950 | 3 |
| 3328 | E-8 | c.2648_2651delTCTT | F883fsX950 | 3 |
| 1945 | E-8 | c.2648_2651delTCTT | F883fsX950 | 3 |
| E-8 | c.2648_2651delTCTT | F883fsX950 | 18 | |
| Family 5 | E-8 | c.2648_2651delTCTT | F883fsX950 | 40 |
| EE34 | E-8 | c.2649delC | F883fsX951 | 41 |
| WS7 | E-8 | c.2649delC | F884fsX951 | 53 |
NOTE: 476X (Khanim et al. 2001) and Y508-L512del (Inoue et al. 1998) are not included here because of discrepancy between nucleotide and amino acid changes.
a: This mutation was described as 1387delCTCT.
b: This mutation was described as 1519del16.
