ABO > ABO*O.02.02
Allele Information
X
X
Edit Public Comment
Last Edited By
Date Of Last Edit
Private Comments
User
Date
Edit
Delete
Add A Private Comment:
Edit Private Comment:
Confirm Deletion Of Comment:
Phenotypes
A
B
A,B
A1
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.53G>T | p.Arg18Leu | Exon 2 |
|
chr9:136,137,553 | chr9:133,262,137 |
|
|
| c.220C>T | p.Pro74Ser | Exon 5 |
|
chr9:136,133,508 | chr9:133,258,092 |
|
|
| c.297A>G | Exon 6 |
|
chr9:136,132,873 | chr9:133,257,457 |
|
||
| c.526C>G | p.Arg176Gly | Exon 7 |
|
chr9:136,131,592 | chr9:133,256,176 |
|
|
| c.649C>T | p.Arg217Cys | Exon 7 |
|
chr9:136,131,469 | chr9:133,256,053 |
|
|
| c.689G>A | p.Gly230Asp | Exon 7 |
|
chr9:136,131,429 | chr9:133,256,013 |
|
|
| c.802G>A | p.Gly268Arg | Exon 7 |
|
chr9:136,131,316 | chr9:133,255,900 |
|
Sequence
None
Publication
None