Variant #0000541658 (NC_000010.10:g.95372880_95372882del, NM_006204.3:c.398_400del (PDE6C))

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.95372880_95372882del
DNA change (hg38) g.93613123_93613125del
Published as PDE6C(NM_006204.4):c.398_400delAAG (p.E133del)
ISCN -
DB-ID PDE6C_000035
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) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
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.398_400del r.(?) p.(Glu133del)


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