LOVD - Variant listings for PORCN

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

About this overview [Show]

7 entries
entries per page

Exon Hide Exon column Descending

DNA change   Descending

RNA change Hide RNA change column Descending

Protein Hide Protein column Descending

Variant Original description Hide Variant Original description column Descending

Type Hide Type column Descending

Variant remarks Hide Variant remarks column Descending

DB-ID Hide DB-ID column Descending

Origin Hide Origin column Descending

X_inactivation Hide X_inactivation column Descending

Reference Hide Reference column Descending

Detection/Template Hide Detection/Template column Descending

Detection/Technique Hide Detection/Technique column Descending
03i c.330-27del r.(?) p.? c.330-27delG Deletion predicted to be benign with in silico analysis PORCN_00101 ? (unknown) non available Fernandes et al. 2010 DNA SEQ
03i c.330-11T>A r.(?) p.? - Substitution possible begnin PORCN_00100 ? (unknown) not available Fernandes et al. 2010 DNA SBE
06 c.682C>T r.(?) p.Arg228Cys - missense inherited from unaffected mother PORCN_00024 familial 82/18 Leoyklang et al. 2009 DNA SEQ
08i c.719+15C>T
  (Reported 2 times)
r.(?) p.? - Substitution possible splicing defect predicted with in silico analysis, inherited from mildly affected mother AMC_22 PORCN_00109 familial 65/35 unpublished DNA SEQ
08i c.720-28C>T r.(?) p.? - Substitution Predicted possible benign with in silico analysis PORCN_00102 ? (unknown) not available Fernandes et al. 2010 DNA SEQ
9 c.853_855delACG - p.Thr285del - Deletion - PORCN_00116 de novo, somatic mosaicism - Peters et al., 2014 DNA PCR
14i c.1284+32C>A r.(?) p.? - Substitution predicted possible benign with in silico analysis and identified in unaffected father rs113706971 PORCN_00103 familial not available Fernandes et al. 2010 DNA SEQ
1 - 7

Legend: [ PORCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique