Variant #0000164458 (NC_000005.9:g.176637442dup, NSD1(NM_022455.4):c.2042dup)

Individual ID 00101274
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637442dup
DNA change (hg38) g.177210441dup
Published as -
ISCN -
DB-ID NSD1_000062
Variant remarks stopcodon after 2 AA
Reference -
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 Martine van Belzen
Database submission license No license selected
Created by Martine van Belzen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/+ 5 c.2042dup r.(?) p.(Asn681fs)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101722 DNA SEQ - - NSD1 1 Martine van Belzen