Full data view for gene PORCN

Information The variants shown are described using the NM_203475.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Maternal (confirmed) - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 mother low level mosaicism PubMed: Wang 2007 - - Germline - - - - X-inactivation 63/37 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Wang 2007 - - De novo - - - - X-inactivation 50/50 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 3 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 4 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 5 - - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 de novo, in patient unpublished - - De novo - - - - - DNA SEQ - - FDH - unpublished - F - Italy white - - - - 1 Raoul Hennekam
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 detected in blood unpublished - - Germline - - - - - DNA SEQ - - FDH - unpublished mosaic M - Netherlands - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.Gly60Arg Unknown - pathogenic g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Bostwick et al, 2016 ClinVar-RCV000011447.6 - Germline/De novo (untested) - - - - - DNA SEQ - - FDH GS-10 PubMed: Bostwick et al, 2016 - F - United States - - - - - 1 Maria Paola Lombardi
+?/. - c.178G>A r.(?) p.(Gly60Arg) Unknown - likely pathogenic g.48369724G>A g.48511336G>A c.178G-->A; p.Gly60Arg - PORCN_000007 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - FDH 294 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.178G>A r.(?) p.(Gly60Arg) Maternal (inferred) - likely pathogenic g.48369724G>A g.48511336G>A PORCN c.178G>A - PORCN_000007 no protein change given, probably hemizygous (gender unknown) PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 73 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
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