GLOB > GLOB*02N.01
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
P
PX2
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.376G>A | p.Asp126Asn | Exon 5 |
|
chr3:160,804,167 | chr3:161,086,379 |
 |
|
| c.598delT | p.Ser200Glnfs*10 | Exon 5 |
|
chr3:160,803,945 | chr3:161,086,157 |
|
Sequence
None
Publication
None