Variant #0000081499 (NC_000009.11:g.140652375_140652387del, EHMT1(NM_024757.4):c.1413_1425del)

Individual ID 00052111
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.140652375_140652387del
DNA change (hg38) g.137757923_137757935del
Published as 1320_1332del13 (P442fs)
ISCN -
DB-ID EHMT1_000003
Variant remarks -
Reference PubMed: Kleefstra 2006, PubMed: Kleefstra 2006, OMIM:var0002
ClinVar ID -
dbSNP ID rs137852715
Origin De novo
Segregation -
Frequency 1/23 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EHMT1 NM_024757.4 +/. 9 c.1413_1425del r.(?) p.(Pro473Glnfs*86)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052059 DNA SEQ - - EHMT1 1 Johan den Dunnen