Variant #0000236409 (NC_000014.8:g.100706049_100706064del, NM_003403.4:c.468_483del (YY1))

Individual ID 00144449
Chromosome 14
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.100706049_100706064del
DNA change (hg38) g.100239712_100239727del
Published as 468_483delCGGCAAGAGCGGCGGC
ISCN -
DB-ID YY1_000001
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 2017-12-14 17:18:50 +01:00 (CET)
Date last edited 2020-07-05 16:51:07 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
YY1 NM_003403.4 +/. - c.468_483del r.(?) p.(Gly157Alafs*94)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145307 DNA SEQ - - - 1 IMGAG


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