Variant #0000164533 (NC_000005.9:g.176636710C>G, NSD1(NM_022455.4):c.1310C>G)

Individual ID 00101322
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.176636710C>G
DNA change (hg38) g.177209709C>G
Published as -
ISCN -
DB-ID NSD1_000004
Variant remarks -
Reference PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002
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 +/. 5 c.1310C>G r.(?) p.(Ser437*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101770 DNA SEQ - - NSD1 1 Johan den Dunnen