Variant #0000698377 (NC_000009.11:g.140637904A>G, EHMT1(NM_024757.4):c.905A>G)

Individual ID 00315051
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.140637904A>G
DNA change (hg38) g.137743452A>G
Published as -
ISCN -
DB-ID EHMT1_000093 See all 2 reported entries
Variant remarks -
Reference PubMed: Squeo 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 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 ?/. 5 c.905A>G r.(?) p.(Lys302Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316227 DNA SEQ;SEQ-NG - 68-gene panel EHMT1 1 Johan den Dunnen