Variant #0000763195 (NC_000005.9:g.176637458T>A, NSD1(NM_022455.4):c.2058T>A)

Individual ID 00361593
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637458T>A
DNA change (hg38) g.177210457T>A
Published as -
ISCN -
DB-ID NSD1_000400 See all 2 reported entries
Variant remarks ACMG PVS1, PS2
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
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 +/. - c.2058T>A r.(?) p.(Tyr686*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362821 DNA SEQ-NG - WES NSD1 1 Johan den Dunnen