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Detailed info
Owner:
trascasa-lab
Position:
exon 4
HAEUID:
158
Nucleotide change
Protein change
Traditional:
4395T>A
Traditional:
Tyr177Asn
HUGO:
g.5577T>A
HUGO:
p.Tyr199Asn
CDS:
c.595T>A
Effect:
pathogenic
Reference:
Roche O et al (Human Mutation 2005 26 (2), 135-144)
Family history:
positive
No. of cases:
0
Notes:
ND
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(registered labs only)