Variant #0000089197 (NC_000022.10:g.(?_41488222)_(41489103_41513190)del, NC_000022.10(NM_001429.3):c.(?_-787)_(94+1_95-1)del (EP300))

Individual ID 00058635
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_41488222)_(41489103_41513190)del
DNA change (hg38) -
Published as deletion ex1
ISCN -
DB-ID EP300_000001
Variant remarks detected by 4 MLPA probes
Reference PubMed: Roelfsema 2005
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 2007-06-22 15:00:00 +02:00 (CEST)
Date last edited 2016-09-28 16:45:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EP300 NM_001429.3 +/+ _1_1i c.(?_-787)_(94+1_95-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058597 DNA MLPA;SEQ - - EP300 1 Johan den Dunnen


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