Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL10A1

Variant:p.L644F

Back to variants list

COL10A1

NM_000493.4:p.L644F

hg38:chr6:116120186 G>A

Associated Papers

COL10A1-related metaphyseal dysplasia Schmid caused by the p.L644F variant in the COL10A1 gene.

Ito T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

41049517 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."