Variant #0000296626 (NC_000005.9:g.176637382G>A, NSD1(NM_022455.4):c.1982G>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637382G>A
DNA change (hg38) g.177210381G>A
Published as NSD1(NM_022455.4):c.1982G>A (p.S661N)
ISCN -
DB-ID NSD1_000125
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ?/. - c.1982G>A r.(?) p.(Ser661Asn)