Variant #0000164436 (NC_000005.9:g.(176200000_176400000)_(177500000_177600000)del, NSD1(NM_022455.4):c.0)

Individual ID 00101358
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.(176200000_176400000)_(177500000_177600000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID NSD1_000003
Variant remarks 1.8 Mb deletion incl. HSPC111 to KIAA1100, (RP11-147K7_RP11-606E24)_(RP11-1006E8_RP11-1107B24)del
Reference PubMed: Kurotaki 2002
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/30 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/. _1_23_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101806 DNA FISH - - NSD1 1 Johan den Dunnen