Variant #0000036676 (NC_000003.11:g.56627543dup, NM_001141947.1:c.1093dup (CCDC66))

Individual ID 00016586
Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.56627543dup
DNA change (hg38) g.56593515dup
Published as -
ISCN -
DB-ID CCDC66_000001
Variant remarks not associated to phenotype
Reference PubMed: Xia 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-05-29 09:52:09 +02:00 (CEST)
Date last edited 2024-04-08 06:19:39 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC66 NM_001141947.1 -?/? 9 c.1093dup r.(?) p.(Met365Asnfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016538 DNA SEQ - - AHDC1, CALY, CCDC66, PTPRB, TBCK 5 Marianne Vos (LOVD-team)


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