Variant #0000164501 (NC_000005.9:g.176637143del, NSD1(NM_022455.4):c.1743del)

Individual ID 00101270
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.176637143del
DNA change (hg38) g.177210142del
Published as 1742delA fsX
ISCN -
DB-ID NSD1_000093
Variant remarks -
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 Birgit Neitzel
Database submission license No license selected
Created by Birgit Neitzel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/. 5 c.1743del r.(?) p.(Glu581Aspfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101718 DNA SEQ - - NSD1 1 Birgit Neitzel