Variant #0000604575 (NC_000005.9:g.176569533del, NSD1(NM_022455.4):c.1527del)

Individual ID 00269595
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.176569533del
DNA change (hg38) g.177209926del
Published as -
ISCN -
DB-ID NSD1_000235
Variant remarks Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
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 Domenico Coviello
Database submission license No license selected
Created by Domenico Coviello
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +/. 5 c.1527del r.(?) p.(Ser510Valfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000270752 DNA HPLC Blood - NSD1 1 Domenico Coviello