Variant #0000876982 (NC_000010.10:g.95380541G>C, NM_006204.3:c.633G>C (PDE6C))

Individual ID 00416064
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.95380541G>C
DNA change (hg38) g.93620784G>C
Published as PDE6C c.633G>C, p.E211D
ISCN -
DB-ID PDE6C_000113 See all 2 reported entries
Variant remarks heterozygous
Reference PubMed: Thiadens 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-22 17:22:08 +02:00 (CEST)
Date last edited 2022-08-22 17:22:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDE6C NM_006204.3 +?/. - c.633G>C r.(?) p.(Glu211Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000417344 DNA SEQ blood - PDE6C 2 LOVD


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