Variant #0000127949 (NC_000022.10:g.(41542821_41543840)_(41558784_41560056)del, NC_000022.10(NM_001429.3):c.(2131+1_2132-1)_(3728+1_3729-1)del (EP300))

Individual ID 00079125
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41542821_41543840)_(41558784_41560056)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID EP300_000033
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 Elena Dominguez-Garrido
Database submission license No license selected
Created by Elena Dominguez-Garrido
Date created 2016-08-03 12:46:16 +02:00 (CEST)
Date last edited 2016-09-28 16:37:39 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EP300 NM_001429.3 +?/. 11i_21i c.(2131+1_2132-1)_(3728+1_3729-1)del r.(2132_3728del) p.(Asn713Leufs*32)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079310 DNA MLPA Blood - CREBBP, EP300 1 Elena Dominguez-Garrido


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