gene issure

[4B青年]

Is there anything wrong in USCS in gene DNAH12?. For example, the codons in position chr3:57344863-57344863 is c.8204, but the codons in clinvar is c.10778, please check it, thank you.

[Luis Nassar]

Hello.

The coordinate HGVS term from ClinVar (NM_001366028.2(DNAH12):c.10778) is based on the hg38 variant position, not hg19. While the transcript mRNA sequence (NM_001366028.2) is the same, the exon boundaries can differ between the assemblies.

You can see the same variant on hg38 matching the correct coordinate here: https://genome.ucsc.edu/s/Lou/RM36776

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Lou Nassar
UCSC Genomics Institute