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Search results for keyword '31472299':
- annotated PLOD mutations (1)
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- LH2a GLY266VAL (LH2a) - GLY266VAL (LH2b) (PLOD2 c.797G>T) - View
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- registered publications (1)
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- Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., Mcalister, W. H., Whyte, M. P. (2019). "Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous plod2 mutation." Bone, 115047. - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "31472299".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-955 Lysyl Hydroxylase 2a/2b (human) LH2a GLY266VAL (LH2a) - GLY266VAL (LH2b)
(PLOD2 c.797G>T)		 Bruck Syndrome (Type II)
Pathogenic		 NA Mumm et al., 2019 View

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