current
AK2:c.697A>T (p.Lys233Ter) 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 a 5-kb deletion following nucleotide 633 (633del5kb), resulting in a lys-to-ter substitution at codon 233 (K233X). The patient was homozygous for this mutation. Two of her 3 unaffected sibs, and each of her unaffected parents, were carriers.
19043416
AK2:c.697A>T (p.Lys233Ter)
NM_001199199.1:c.670+3A>T
NM_013411.4:c.694+3A>T
NM_001625.3:c.697A>T
LRG_133:g.28688A>T
NG_016269.1:g.28688A>T
NC_000001.10:g.33478805T>A
NR_037591.1:n.895+3A>T
NR_037592.1:n.898A>T
NP_001616.1:p.Lys233Ter
intron
STOP-GAIN
intron
K233*
LYS233TER
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 a 5-kb deletion following nucleotide 633 (633del5kb), resulting in a lys-to-ter substitution at codon 233 (K233X). The patient was homozygous for this mutation. Two of her 3 unaffected sibs, and each of her unaffected parents, were carriers.
19043416
AK2, LYS233TER
LYS233TER
AK2
RETICULAR DYSGENESIS