Variant #0000293633 (NC_000010.10:g.95381766G>A, NM_006204.3:c.801G>A (PDE6C))

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.95381766G>A
DNA change (hg38) g.93622009G>A
Published as PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=)
ISCN -
DB-ID PDE6C_000009 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDE6C NM_006204.3 -?/. - c.801G>A r.(?) p.(Thr267=)


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