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The PLOD1 mutation data have been added to a new database.

LOVD - Variant listings for PLOD1

About this overview [Show]

Patient data (#0001831)
Patient ID Patient III:2
Disease Gastroschisis
Reference Salinas-Torres et al., 2020
Template DNA
Technique SEQ, WES
Remarks The proband and her half-sister were born with gastroschisis. Both individuals and their shared mother carried the variant. This variant was described in the paper as ENST00000376369.3:c.1612-8C>T.
Ethnic origin Mexican

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
Exon 13i
DNA change c.1471-8C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Splice site
Protein -
RNA change -
Re-site -
DB-ID PLOD1_00060
Frequency -

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
Frequency Descending
Ascending
+?/- Unknown 13i c.1471-8C>T dbSNP Substitution Splice site - - - PLOD1_00060 -