ABO > ABO*O.01.24
Allele Information
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Phenotypes
A
B
A,B
A1
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.106G>T | p.Val36Phe | Exon 3 |
|
chr9:136,136,774 | chr9:133,261,358 |
|
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| c.188G>A | p.Arg63His | Exon 4 |
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chr9:136,135,240 | chr9:133,259,824 |
|
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| c.189C>T | Exon 4 |
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chr9:136,135,239 | chr9:133,259,823 |
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| c.261delG | p.Thr88Profs*31 | Exon 6 |
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chr9:136,132,909 | chr9:133,257,493 |
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| c.297A>G | Exon 6 |
|
chr9:136,132,873 | chr9:133,257,457 |
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| c.526C>G | p.Arg176Gly | Exon 7 |
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chr9:136,131,592 | chr9:133,256,176 |
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| c.657C>T | Exon 7 |
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chr9:136,131,461 | chr9:133,256,045 |
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||
| c.703G>A | p.Gly235Ser | Exon 7 |
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chr9:136,131,415 | chr9:133,255,999 |
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| c.796C>A | p.Leu266Met | Exon 7 |
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chr9:136,131,322 | chr9:133,255,906 |
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| c.803G>C | p.Gly268Ala | Exon 7 |
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chr9:136,131,315 | chr9:133,255,899 |
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| c.930G>A | Exon 7 |
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chr9:136,131,188 | chr9:133,255,772 |
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Sequence
None
Publication
None