Look at the gene coding for dystrophin. Look at "Clinical Variants with Precise Endpoints" for Exon 44 of 79 (as per Gen

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Look At The Gene Coding For Dystrophin Look At Clinical Variants With Precise Endpoints For Exon 44 Of 79 As Per Gen 1 (27.7 KiB) Viewed 144 times

Look at the gene coding for dystrophin. Look at "Clinical Variants with Precise Endpoints" for Exon 44 of 79 (as per Genes, MANE annotation). Look at Clinvar variant # 94705 located at 32,216,962 on the human X chromosome. What is the pathogenic status of this variant, the cause of the variant, and the molecular consequence of the variant? O pathogenic, single nucleotide variant, nonsense O pathogenic, microsatellite, frameshift likely benign, single nucleotide variant, missense variant O pathogenic, deletion, splice donor variant