Dombrock > DO*02N.04
Allele Information
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Phenotypes
Doa
Dob
Gya
Hy
Joa
DOYA
DOMR
DOLG
DOLC
DODE
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.268C>T | p.Gln90* | Exon 2 |
|
chr12:14,993,964 | chr12:14,841,030 |
 |
|
| c.793A>G | Exon 2 |
|
chr12:14,993,439 | chr12:14,840,505 |
|
Sequence
None
Publication
None