Full data view for gene PDE6C

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006204.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

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     
+/. - c.864+1G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.95381830G>A - 10:95381830G>A ENST00000371447.3:c.864+1G>A - PDE6C_000060 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000974 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.864+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, - PDE6C_000060 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000974 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 4i c.864+1G>A r.spl? p.? Unknown - likely pathogenic g.95381830G>A - c.864+1G>A - PDE6C_000060 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 4i c.864+1G>A r.spl? p.? Unknown - likely pathogenic g.95381830G>A - c.864+1G>A - PDE6C_000060 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. - c.864+1G>A r.(?) p.? Unknown ACMG pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, Splicing Defect - PDE6C_000060 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P1 PubMed: Georgiou 2019 pedigree GC23489, individual P1 F - - Nepali - - - - 1 LOVD
+/. - c.864+1G>A r.(?) p.? Both (homozygous) ACMG pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, Splicing Defect - PDE6C_000060 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P2 PubMed: Georgiou 2019 pedigree GC17774, individual P2 F - - Pakistani - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.