Variant #0000081511 (NC_000009.11:g.(?_137970000)_(141020000_141040000)del, NM_024757.4:c.-37_*1174{0} (EHMT1))

Individual ID 00052123
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.(?_137970000)_(141020000_141040000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID EHMT1_000000 See all 10 reported entries
Variant remarks 3.1Mb deletion from OLFM1 to CACNA1B
Reference PubMed: Kleefstra 2009, PubMed: Kleefstra 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
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 2015-10-16 12:36:06 +02:00 (CEST)
Date last edited 2022-07-17 11:45:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1B NM_000718.3 +/. _1_47_ c.0 r.0 p.0
EHMT1 NM_024757.4 +/. _1_27_ c.-37_*1174{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052071 DNA MLPA - - EHMT1 1 Johan den Dunnen


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