Variant #0000799909 (NC_000005.9:g.176636882C>A, NSD1(NM_022455.4):c.1482C>A)

Individual ID 00382961
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.176636882C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID NSD1_000412
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Domenico Coviello
Database submission license No license selected
Created by Domenico Coviello
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +?/. 5 c.1482C>A r.(?) p.(Cys494*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384184 DNA SEQ-NG blood - NSD1 1 Domenico Coviello