Variant #0000164461 (NC_000005.9:g.176637432A>G, NSD1(NM_022455.4):c.2032A>G)

Individual ID 00101273
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.176637432A>G
DNA change (hg38) g.177210431A>G
Published as -
ISCN -
DB-ID NSD1_000076
Variant remarks unclassified variant
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Birgit Neitzel
Database submission license No license selected
Created by Birgit Neitzel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ?/? 5 c.2032A>G r.(?) p.(Met678Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101721 DNA SEQ - - NSD1 1 Birgit Neitzel