Variant #0000989554 (NC_000007.13:g.151878530G>A, NM_170606.2:c.6415C>T (MLL3))

Individual ID 00453054
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.151878530G>A
DNA change (hg38) g.152181445G>A
Published as -
ISCN -
DB-ID MLL3_000259 See all 2 reported entries
Variant remarks ACMG PVS1, PM2_sup
Reference PubMed: Rots 2024, Journal: Rots 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-08-15 19:46:57 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLL3 NM_170606.2 +?/. - c.6415C>T r.(?) p.(Arg2139Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000454665 DNA SEQ-NG;SEQ - - - 4 Johan den Dunnen


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