ABCA4 p.Asp1613Asn
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PMID: 26103963
[PubMed]
Boulanger-Scemama E et al: "Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation."
No.
Sentence
Comment
100
Np Highly - - - Novel CIC05853 simplex + ABC4A NM_000350.2 Ho 22 c.3259G>A p.E1087K Np Highly Prd D Dc (Allikmets et al. 1997) (rs61751398) [81] CIC05854 Ar + ABC4A NM_000350.2 Ho 35 c.4919G>A p.(R1640Q) + Highly Prd D Dc (Simonelli et al. 2000) (rs61751403) [82] CIC05989 simplex ABC4A NM_000350.2 Het 34 c.4837G>A p.(D1613N) + Not B D Dc Novel ABC4A NM_000350.2 Het 10 c.1302del p.(Q437Rfs*12) + - - - - Novel ABCA4 NM_000350.2 Het 38 c.5318C>T p.(A1773V) + Moderately Prd D Dc (Stenirri et al. 2008) [83] CIC06170 simplex ABC4A NM_000350.2 Het 44 c.6089G>A p.(R2030Q) + Highly Prd D Dc (Lewis et al. 1999) (rs61750641) ABC4A NM_000350.2 Het IVS 24 c.3607+3A>T r.(spl?)
X
ABCA4 p.Asp1613Asn 26103963:100:319
status: NEW