current
AK2:c.25G>T (p.Glu9Ter) AND Reticular dysgenesis
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a female with reticular dysgenesis (267500), Lagresle-Peyrou et al. (2009) identified homozygosity for a G-to-T transversion at nucleotide 25 in exon 1 of the AK2 gene, resulting in a glu-to-ter codon substitution at amino acid 9 (E9X). The child was homozygous for this mutation. Each of her parents was a carrier.
19043416
AK2:c.25G>T (p.Glu9Ter)
NM_013411.4:c.25G>T
LRG_133:g.5088G>T
NG_016269.1:g.5088G>T
NC_000001.10:g.33502405C>A
NR_037591.1:n.108G>T
NP_037543.1:p.Glu9Ter
STOP-GAIN
E9*
GLU9TER
1p35
adenylate kinase 2
AK2
Reticular dysgenesis
ALEUKOCYTOSIS
HEMATOPOIETIC HYPOPLASIA, GENERALIZED
RETICULAR DYSGENESIA
RD
Neonatal/infancy
<1 / 1 000 000
current
pathogenic
germline
human
not provided
curation
In a female with reticular dysgenesis (267500), Lagresle-Peyrou et al. (2009) identified homozygosity for a G-to-T transversion at nucleotide 25 in exon 1 of the AK2 gene, resulting in a glu-to-ter codon substitution at amino acid 9 (E9X). The child was homozygous for this mutation. Each of her parents was a carrier.
19043416
AK2, GLU9TER
GLU9TER
AK2
RETICULAR DYSGENESIS