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) |

Variant on transcripts
Screenings
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