Variant #0000089261 (NC_000022.10:g.(41513826_41521867)_(41533795_41536143)del, NC_000022.10(NM_001429.3):c.(729+1_730-1)_(1760+1_1761-1)del (EP300))

Individual ID 00058699
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.(41513826_41521867)_(41533795_41536143)del
DNA change (hg38) -
Published as deletion ex3 to 8
ISCN -
DB-ID EP300_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Martine van Belzen
Database submission license No license selected
Created by Martine van Belzen
Date created 2010-03-29 15:28:42 +02:00 (CEST)
Date last edited 2016-09-28 16:50:09 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EP300 NM_001429.3 +/+ 2i_8i c.(729+1_730-1)_(1760+1_1761-1)del r.(730_1760del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058661 DNA SEQ - - EP300 1 Martine van Belzen


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