Variant #0000405005 (NC_000011.9:g.67941376_67941379dup, NM_017635.3:c.554_557dup (SUV420H1))

Individual ID 00180374
Chromosome 11
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.67941376_67941379dup
DNA change (hg38) g.68173909_68173912dup
Published as -
ISCN -
DB-ID SUV420H1_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2018-09-06 14:21:25 +02:00 (CEST)
Date last edited 2020-07-01 09:58:06 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUV420H1 NM_017635.3 +?/. - c.554_557dup r.(?) p.(Arg187Phefs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181311 DNA SEQ - - - 1 IMGAG


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