SiMPLOD v. 0.6.2 alpha

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Search results for keyword '10874315':
- annotated PLOD mutations (1)

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- LH1 ARG670END (PLOD1 c.2008C>T) - ClinVar - View
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- registered publications (1)

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- Yeowell, H. N., L. C. Walker, B. Farmer, J. Heikkinen and R. Myllyla (2000). "Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family." Hum Mutat 16(1): 90 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "10874315".

SiMPLOD ID	Isoenzyme	Mutation	Disease phenotype	CLINVAR	Reference papers	Viewer
SiMPLOD1-51	Lysyl Hydroxylase 1 (human)	LH1 ARG670END (PLOD1 c.2008C>T)	Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) *Pathogenic*	14373	Yeowell et al., 2000	View
SiMPLOD1-72	Lysyl Hydroxylase 1 (human)	LH1 delta368-372 (PLOD1 c.1103_1117del)	Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) *Pathogenic*	NA	Yeowell et al., 2000	View
SiMPLOD1-87	Lysyl Hydroxylase 1 (human)	LH1 GLN327END (PLOD1 c.979C>T)	Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) *Pathogenic*	561087	Yeowell et al., 2000	View
SiMPLOD1-209	Lysyl Hydroxylase 1 (human)	LH1 TYR511END (PLOD1 c.1533C>G)	Ehlers-Danlos syndrome, cardiovascular phenotype *Pathogenic*	14370	Walker et al., 1999 Yeowell et al., 2000 Yeowell et al., 1997 Pousi et al., 2000	View
SiMPLOD1-107	Lysyl Hydroxylase 1 (human)	LH1 GLY678ARG (PLOD1 c.2032G>A)	Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) *Conflicting interpretations of pathogenicity*	14366	Ha et al., 1994 Yeowell et al., 2000 Rohrbach et al., 2011 Miller et al., 1979 Dembure et al., 1984 Dembure et al., 1987	View
SiMPLOD1-208	Lysyl Hydroxylase 1 (human)	LH1 TYR142END (PLOD1 426T>A)	Ehlers-Danlos syndrome, cardiovascular phenotype *Uncertain significance*	NA	Yeowell et al., 2000	View