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Detailed info
Owner:
Rijavec-Golnik
Position:
exon 8
HAEUID:
323
Nucleotide change
Protein change
Traditional:
16880T>G
Traditional:
Tyr474Stop
HUGO:
g.18062T>G
HUGO:
p.Tyr496Ter
CDS:
c.1488T>G
Effect:
pathogenic
Reference:
Grivčeva-Panovska et al. (Ann Med. 2018;50(3):269-276)
Family history:
positive
No. of cases:
0
Notes:
ND
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(registered labs only)