Variant #0000694273 (NC_000009.11:g.140611397G>T, EHMT1(NM_024757.4):c.405G>T)

Individual ID 00311499
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.140611397G>T
DNA change (hg38) g.137716945G>T
Published as -
ISCN -
DB-ID EHMT1_000130
Variant remarks -
Reference PubMed: Faundes 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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 -?/. - c.405G>T r.(?) p.(Gln135His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312669 DNA SEQ;SEQ-NG - WES EHMT1 1 Johan den Dunnen