Variant #0000164459 (NC_000005.9:g.(176563032_176618884)_qterdelins[NC_000008.10:(159900000_168500000)_qter], NSD1(NM_022455.4):c.(927+1_928-1))

Individual ID 00101356
Chromosome 5
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.(176563032_176618884)_qterdelins[NC_000008.10:(159900000_168500000)_qter]
DNA change (hg38) -
Published as -
ISCN 46,XX,t(5;8)(q35;q24.1)
DB-ID NSD1_000000
Variant remarks translocation
Reference PubMed: Kurotaki 2002
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/. 2i c.(927+1_928-1) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101804 DNA FISH - - NSD1 4 Johan den Dunnen