Variant #0000787490 (NC_000005.9:g.(?_176636637)_(176639196_?)del, NSD1(NM_022455.4):c.(1236+1_1237-1)_(3796+1_3797-1)del)

Individual ID 00374346
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.(?_176636637)_(176639196_?)del
DNA change (hg38) -
Published as chr5:176636637-?_176639196+?del
ISCN -
DB-ID NSD1_000406
Variant remarks -
Reference 0
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
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 +/. 4i_5i c.(1236+1_1237-1)_(3796+1_3797-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375540 DNA SEQ-NG - TruSight One panel IGHMBP2 2 Johan den Dunnen