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Detailed info
Owner:
admin
Position:
exon 6
HAEUID:
91
Nucleotide change
Protein change
Traditional:
8770T>C
Traditional:
Phe291Leu
HUGO:
g.9952T>C
HUGO:
p.Phe313Leu
CDS:
c.937T>C
Effect:
pathogenic
Reference:
Siddique Z et al (Hum Hered. 1995 Mar-Apr;45(2):98-102.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)