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Search results for keyword '15979919':
- annotated PLOD mutations (1)
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- LH1 ALA667THR (PLOD1 c.1999G>A) - View
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- registered publications (1)
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- Giunta, C., A. Randolph and B. Steinmann (2005). "Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Mol Genet Metab 86(1-2): 269-276 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "15979919".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-35 Lysyl Hydroxylase 1 (human) LH1 ARG319END
(PLOD1 c.955C>T)		 no disease phenotype information available
Pathogenic		 14364 Hyland et al., 1992Eyre et al., 2002
Giunta et al., 2005
Steinmann et al., 1995
al-Gazali et al., 1997
Royce et al. 1985
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SiMPLOD1-13 Lysyl Hydroxylase 1 (human) LH1 ALA667THR
(PLOD1 c.1999G>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Giunta et al., 2005
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SiMPLOD1-134 Lysyl Hydroxylase 1 (human) LH1 dupl326-585;TYR455THRFS
(PLOD1 c.975+975_1755+?dup+c.1362delC)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Pathogenic		 NA Giunta et al., 2005
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SiMPLOD1-324 Lysyl Hydroxylase 1 (human) LH1 TYR455THRFS
(PLOD1 c.1362delC)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Giunta et al., 2005
Salavoura et al., 2006
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SiMPLOD1-126 Lysyl Hydroxylase 1 (human) LH1 HIS706ARG
(PLOD1 c.2117A>G)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Uncertain significance		 NA Giunta et al., 2005
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