Variant #0000164438 (NC_000005.9:g.176631148A>G, NSD1(NM_022455.4):c.1091A>G)

Individual ID 00101267
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.176631148A>G
DNA change (hg38) g.177204147A>G
Published as -
ISCN -
DB-ID NSD1_000059
Variant remarks de novo, in patient
Reference -
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 No license selected
Created by Martine van Belzen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ?/+ 4 c.1091A>G r.(?) p.(Tyr364Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101715 DNA SEQ - - NSD1 1 Johan den Dunnen