Variant #0000304581 (NC_000005.9:g.176637407_176637413del, NSD1(NM_022455.4):c.2007_2013del)

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.176637407_176637413del
DNA change (hg38) g.177210406_177210412del
Published as NSD1(NM_022455.4):c.2007_2013delCGATAGA (p.F669Lfs*14)
ISCN -
DB-ID NSD1_000126
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/. - c.2007_2013del r.(?) p.(Phe669LeufsTer14)