T45A (p.Thr45Ala) variant of CRX (Cone-rod homeobox protein)
T45A (p.Thr45Ala) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The record also includes experimental measurements, published literature, and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- rs2514252159
- ClinGen CA406629469
- ClinVar RCV003112649
- NCI-TCGA Cosmic COSV5575
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.145
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)