Variant #0000730033 (NC_000005.9:g.176637224del, NSD1(NM_022455.4):c.1824del)

Individual ID 00331532
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637224del
DNA change (hg38) g.177210223del
Published as NM_022455.4:c.1824delA:p.(Lys608Asnfs*12)
ISCN -
DB-ID NSD1_000398
Variant remarks -
Reference PubMed: Maddirevula 2018
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 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 +/. - c.1824del r.(?) p.(Lys608Asnfs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332751 DNA SEQ;SEQ-NG - WES NSD1 1 LOVD