LOVD - Variant listings for PLS3

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Patient data (#0003553)
Patient ID
Disease XL Osteoporosis
Reference Constantini et al., 2018
Template DNA
Technique PCR, SEQ
Remarks The proband's mother does not harbour the variant.

The variant is incorrectly described as NM_005032:c.1096_1100del in the published account.
Ethnic origin Greek

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 10
DNA change c.1097_1101del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation effect Frameshift
Protein p.(Asn366Serfs*5)
RNA change -
Re-site -
DB-ID PLS3_00011

1 entry in PLS3

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 10 c.1097_1101del - Deletion Frameshift p.(Asn366Serfs*5) - - PLS3_00011