LOVD - Variant listings for PLOD1

About this overview [Show]

Patient data (#0001830)
Patient ID Family 122
Disease Myopia
Reference Kloss et al., 2017
Template DNA
Technique WES
Remarks This variant is associated with high myopia, and cosegregated with the phenotype.
Ethnic origin Danish

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 18
DNA change c.1927G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Val643Ile
RNA change -
Re-site -
DB-ID PLOD1_00059

1 entry 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
+?/+? Unknown 18 c.1927G>A - Substitution Missense p.Val643Ile - - PLOD1_00059