Scianna > SC*01.-05
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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.139G>A | p.Glu47Lys | Exon 4 | chr1:43,296,492 | chr1:42,830,821 |
Sequence
None
Publication
None