| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| 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 |
|
|
