LOVD - Variant listings for PLOD1

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Patient data (#0000494)
Patient ID GM01790
Disease EDS VI
Reference Hautala et al., 1993
Template DNA, RNA
Technique RT-PCR, SEQ, Southern
Remarks The sister of the patient also harbours the same variant and she is described as GM01791 in Hautala et al., 1993. The two siblings are also clinically reported in Pinnell et al., 1972 and Krane et al., 1972. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In Hautala et al., 1993, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by Heikkinen et al., 1997 giving the ethnic origin.
Ethnic origin American

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09i
DNA change c.975+975_1755+?dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Duplication
Protein p.Glu326_Lys585dup
RNA change -
Re-site +Eael, +SexAI
DB-ID PLOD1_00003

2 entries in PLOD1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+/+ Paternal (inferred) 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003
+/+ Maternal (inferred) 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003