Variant #0000079301 (NC_000011.9:g.118344533G>T, NM_001197104.1:c.2659G>T (KMT2A))

Individual ID 00050376
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.118344533G>T
DNA change (hg38) g.118473818G>T
Published as -
ISCN -
DB-ID KMT2A_000001
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018
ClinVar ID -
dbSNP ID -
Origin De novo
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 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2020-09-25 12:19:11 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KMT2A NM_001197104.1 ./. - c.2659G>T r.(?) p.(Glu887*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050321 DNA SEQ;SEQ-NG-I - - KMT2A 1 Johan den Dunnen


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