P1PK > A4GALT*01N.08
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
P1
Pk
NOR
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.504dupC | p.Tyr169Leufs*114 | Exon 3 |
|
chr22:43,089,454 | chr22:42,693,448 |
 |
|
| c.914C>T | Exon 3 |
|
chr22:43,089,044 | chr22:42,693,038 |
|
Sequence
None
Publication
None