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| Corneal dystrophy v3.13 | TCF4_CTG |
Sarah Leigh STR: TCF4_CTG was added STR: TCF4_CTG was added to Corneal dystrophy. Sources: Literature STR, NGS Not Validated tags were added to STR: TCF4_CTG. Mode of inheritance for STR: TCF4_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: TCF4_CTG were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 Phenotypes for STR: TCF4_CTG were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267; corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203 Review for STR: TCF4_CTG was set to GREEN Added comment: TCF4 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. TCF4_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 TCF4_CTG is on https://stripy.org/database TCF4_CTG is on DRAGON 4.02. The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02 The coordinates https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were the same as above. The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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