ABCA4 p.Leu1195Arg
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PMID: 23096905
[PubMed]
Oldani M et al: "Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease."
No.
Sentence
Comment
77
This insertion leads to a reading frame shift in the coding region downstream, which results in a change in amino acid 1195 from leucine to arginine and the appearance of a stop codon in the next position, generating a truncated protein.
X
ABCA4 p.Leu1195Arg 23096905:77:119
status: NEW