Variant #0000164509 (NC_000005.9:g.176562443C>T, NSD1(NM_022455.4):c.339C>T)

Individual ID 00101283
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.176562443C>T
DNA change (hg38) g.177135442C>T
Published as -
ISCN -
DB-ID NSD1_000061
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00474 View details
Owner Martine van Belzen
Database submission license No license selected
Created by Martine van Belzen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ?/? 2 c.339C>T r.(?) p.(Cys113=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101731 DNA SEQ - - NSD1 1 Martine van Belzen