ABCA4 p.Lys678Asn
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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
101
+ Moderately - - - Novel ABCA4 NM_000350.2 Het 14 c.2034G>T p.(K678N) + Highly Prd Des Dc (Huang et al. 2014) [84] CIC06735 Ar + ABC4A NM_000350.2 Ho 42 c.5892del p.(G1965Efs*9) Np - - - - a CIC06913 Ar + ABCA4 NM_000350.2 Ho 21 c.3056C>T p.(T1019M) + Highly Prd D Dc (Rozet et al. 1998) (rs201855602) [85] CIC04239 Ar + CDHR1 NM_033100.3 Ho 9 c.838C>T p.(R280*) Np - - - Novel CIC06568 Ar + CERKL NM_001030311.2 Ho 8 c.1090C>T p.(R364*) Np - - - - Thesis (Sergouniotis P. 2012) b CIC07299 simplex + PDE6C NM_006204.3 Ho 2 c.542del p.(A181Efs*13) Np - - - - Novel CIC05218 Ar + PDE6C NM_006204.3 Ho IVS 10 c.1413+3A>T r.(spl?)
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ABCA4 p.Lys678Asn 26103963:101:63
status: NEW