Variant #0000164482 (NC_000005.9:g.176637149G>A, NSD1(NM_022455.4):c.1749G>A)

Individual ID 00101249
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637149G>A
DNA change (hg38) g.177210148G>A
Published as -
ISCN -
DB-ID NSD1_000039 See all 3 reported entries
Variant remarks -
Reference PubMed: Douglas 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.17826 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 -/. 5 c.1749G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101697 DNA CSGE - - NSD1 1 Johan den Dunnen