Diego > DI*02.16
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
Dia
Dib
Wra
Wrb
Wda
Rba
WARR
ELO
Wu
Bpa
Moa
Hga
Vga
Swa
BOW
NFLD
Jna
KREP
Tra
Fra
SW1
DISK
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.1287A>T | p.Glu429Asp | Exon 12 |
|
chr17:42,335,171 | chr17:44,257,803 |
|
|
| c.1681C>G | p.Pro561Ala | Exon 14 |
|
chr17:42,333,160 | chr17:44,255,792 |
|
Sequence
None
Publication
None