current
AK2:c.556C>T (p.Arg186Cys) 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) found compound heterozygosity for mutations in the AK2 gene: a C-to-T transition at nucleotide 556 in exon 6, resulting in an arg-to-cys substitution at codon 186 (R186C), and an exon 2 deletion (see 103020.0010).
19043416
AK2:c.556C>T (p.Arg186Cys)
NM_013411.4:c.556C>T
LRG_133:g.28547C>T
NG_016269.1:g.28547C>T
NC_000001.10:g.33478946G>A
NR_037591.1:n.757C>T
NP_037543.1:p.Arg186Cys
missense
R186C
ARG186CYS
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) found compound heterozygosity for mutations in the AK2 gene: a C-to-T transition at nucleotide 556 in exon 6, resulting in an arg-to-cys substitution at codon 186 (R186C), and an exon 2 deletion (see 103020.0010).
19043416
AK2, ARG186CYS
ARG186CYS
AK2
RETICULAR DYSGENESIS