Variant #0000690491 (NC_000009.11:g.140695369_140695370del, EHMT1(NM_024757.4):c.2645_2646del)

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.140695369_140695370del
DNA change (hg38) -
Published as EHMT1(NM_024757.5):c.2645_2646delAG (p.E882Vfs*16)
ISCN -
DB-ID EHMT1_000128
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EHMT1 NM_024757.4 +/. - c.2645_2646del r.(?) p.(Glu882ValfsTer16)