Variant #0000164483 (NC_000005.9:g.176637192T>C, NSD1(NM_022455.4):c.1792T>C)

Individual ID 00101250
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.176637192T>C
DNA change (hg38) g.177210191T>C
Published as -
ISCN -
DB-ID NSD1_000040 See all 2 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) 0.01212 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.1792T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101698 DNA CSGE - - NSD1 1 Johan den Dunnen