pathogenic-variant-lookup-q1

Question

Using the human SHH MANE Select transcript on hg38, consider the coding sequence within exon 1. Within this interval, identify all OMIM allelic variants with phenotypes that map to single-nucleotide missense substitutions in SHH. Retrieve the AlphaMissense pathogenicity scores for those amino-acid substitutions. Return the single variant with the highest AlphaMissense score, in chr:pos (1-based) format.

Predicted answer

chr7:155811860Most likely answer for this question; not uniquely determined from submitted scores.

Domain

Genomics

Question style

Retrieval

An answer can be uniquely inferred for 54 of 100 questions from submitted scores. Green: correct · Red: incorrect. For questions without a uniquely determined answer: Blue: matches prediction · Orange: differs from prediction. These are inferred answer checks, not official per-question grades.