Variant #0000081510 (NC_000009.11:g.140671088C>T, EHMT1(NM_024757.4):c.1810C>T)

Individual ID 00052122
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.140671088C>T
DNA change (hg38) g.137776636C>T
Published as 1717C>T (Gln573X )
ISCN -
DB-ID EHMT1_000009
Variant remarks -
Reference PubMed: Kleefstra 2009, PubMed: Kleefstra 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EHMT1 NM_024757.4 +/. 12 c.1810C>T r.(?) p.(Gln604*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052070 DNA SEQ - - EHMT1 1 Johan den Dunnen