Scianna > SC*02
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Phenotypes
Sc1
Sc2
Sc3
Rd
STAR
SCER
SCAN
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.169G>A | p.Gly57Arg | Exon 4 |
|
chr1:43,296,522 | chr1:42,830,851 |
 |
Sequence
None
Publication
None