ABCA4 p.Gln636*
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 22863181
[PubMed]
Strom SP et al: "Molecular diagnosis of putative Stargardt disease probands by exome sequencing."
No.
Sentence
Comment
77
STGD-02 15 Female 20/160 20/100 Few yellowish Flecks without autofluorescence Normal rod Normal cone Abnormal p.Q636X p.G1961E* .
X
ABCA4 p.Gln636* 22863181:77:112
status: NEW106 The second variant p.Q636X introduces a premature termination codon and is thus considered very likely deleterious.
X
ABCA4 p.Gln636* 22863181:106:21
status: NEW155 Of the five total disease-causing ABCA4 alleles found by WES, four (all except p.Q636X) have previously been described and are genotyped by the current ABCR array available from Asper Biotech, supporting the use of the genotyping array as a first-pass screening tool due to its low cost.
X
ABCA4 p.Gln636* 22863181:155:81
status: NEW