LOVD - Variant listings for PLOD1

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Patient data (#0001829)
Patient ID
Disease Low BMD
Reference Tasker et al., 2005
Template DNA
Technique PCR, SEQ
Remarks The variant is shown to be associated with decreased lumbar spine bone mineral density measurements, but this only occurs when the variant is heterozygous, not homozygous, in the patient. The authors incorrectly described this variant as G386A, and incorrectly described it as causing a change in codon 99.
Ethnic origin Scottish

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
Exon 03
DNA change c.295G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Ala99Thr
RNA change -
Re-site -
DB-ID PLOD1_00058

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 03 c.295G>A - Substitution Missense p.Ala99Thr - - PLOD1_00058